Hs03878102_cn

• Gene Symbol: AHNAK2
• Assay Reference Genome Location: Chr.14:104937705 on build GRCh38
• Cytoband: 14q32.33

Target Gene Details

• Entrez Gene ID: 113146
• Gene Name: AHNAK nucleoprotein 2
• Gene Aliases: C14orf78
• Location: Chr.14:104937253-104978357 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AHNAK2	NM_138420.2	7	17866	NP_612429.2
	XM_005267299.1	7	17719	XP_005267356.1
	AB095939.1	1	8767	BAC23115.1
	AK095704.1	1	1666
	AK126472.1	1	4348
	AL834367.1	1	2910	CAD39030.1
	BC011859.2	1	1568	AAH11859.2
	BC033372.1	1	1474	AAH33372.1
	BC049216.1	1	1908	AAH49216.1
	BC090889.1	3	2984	AAH90889.1
	BX537923.1	1	3748	CAD97904.1
	BX538040.1	1	3522	CAD97981.1
	BX538106.1	1	3988	CAD98019.1
	BX538133.1	1	3409	CAD98034.1

Target Gene Details

• Entrez Gene ID: 122618
• Gene Name: phospholipase D family member 4
• Gene Aliases: C14orf175
• Location: Chr.14:104924806-104937789 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLD4	XM_011536411.2	11	2084	XP_011534713.1
	XM_017020965.1	11	1973	XP_016876454.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv566139	Chr.14:104880959 - 104950810 on Build GRCh38	Loss	AHNAK2 PLD4 CEP170B
nsv566099	Chr.14:104818822 - 104946204 on Build GRCh38	Gain	AHNAK2 PLD4 LINC00638 CEP170B
esv25274	Chr.14:104934334 - 104953760 on Build GRCh38	Gain	AHNAK2 PLD4
nsv952276	Chr.14:104922864 - 105021963 on Build GRCh38	Deletion	AHNAK2 PLD4 CDCA4 C14orf79
nsv1049253	Chr.14:104918622 - 105005518 on Build GRCh38	Gain	AHNAK2 PLD4 C14orf79
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	LOC105370687 LOC101929634 LOC388022 BRF1 EIF5 LINC00637 C14orf79 TRMT61A PPP1R13B AKT1 MIR203A ASPG LOC105370691 TMEM179 PLD4 LOC107984648 CEP170B MIR4710 XRCC3 MARK3 KLC1 PACS2 AHNAK2 APOPT1 CDCA4 LOC105370708 ZBTB42 ADSSL1 BAG5 LINC00638 LOC102723354 SNORA28 LOC105378183 KIF26A ZFYVE21 SIVA1 RD3L TDRD9 GPR132 C14orf180 MIR6765 JAG2 MIR203B BTBD6 C14orf2 CKB INF2 NUDT14

More Information

Additional Information:

For this assay, SNP(s) [rs79161962] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

phospholipase

Gene Ontology Categories:

Process(es)

plasma membrane repair
lipid catabolic process
inositol phosphate metabolic process

Function(s)

protein binding
phosphatidylinositol phospholipase C activity
phospholipase D activity
N-acylphosphatidylethanolamine-specific phospholipase D activity