Hs02166410_cn

• Gene Symbol: ANKRD54
• Assay Reference Genome Location: Chr.22:37844315 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 129138
• Gene Name: ankyrin repeat domain 54
• Gene Aliases: LIAR
• Location: Chr.22:37830854-37848994 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKRD54	NM_138797.2			NP_620152.1
	NR_036556.1
	XM_011529877.2	1	323	XP_011528179.1
	XM_011529878.2			XP_011528180.1
	XM_011529883.2			XP_011528185.1
	XM_017028590.1			XP_016884079.1
	XM_017028593.1	1	302	XP_016884082.1
	BC014641.1			AAH14641.1
	BC066909.1			AAH66909.1
	BX401122.2
	CR456471.1			CAG30357.1

Target Gene Details

• Entrez Gene ID: 724028
• Gene Name: microRNA 658
• Gene Aliases: MIRN658, hsa-mir-658
• Location: Chr.22:37844272-37844371 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR658	NR_030395.1	1	57

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758838	Chr.22:37607870 - 37869871 on Build GRCh38	Loss	SH3BP1 EIF3L MIR658 NOL12 LGALS1 MIR659 PDXP GALR3 LOC101927051 GCAT H1F0 TRIOBP LOC102724378 ANKRD54 GGA1
esv2666189	Chr.22:37839635 - 37847101 on Build GRCh38	Deletion	MIR658 ANKRD54
esv3647720	Chr.22:37839586 - 37847329 on Build GRCh38	Loss	MIR658 ANKRD54
esv3893482	Chr.22:37832559 - 37927500 on Build GRCh38	Gain	EIF3L MIR658 MICALL1 MIR659 ANKRD54

More Information

Additional Information:

For this assay, SNP(s) [rs141002682] 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

Gene Ontology Categories:

Process(es)

nucleocytoplasmic transport
positive regulation of erythrocyte differentiation
regulation of protein kinase activity
regulation of intracellular signal transduction

Function(s)

protein binding
protein kinase regulator activity
protein complex binding