Hs01890200_cn

• Gene Symbol: UACA
• Assay Reference Genome Location: Chr.15:70664772 on build GRCh38
• Cytoband: 15q23

Target Gene Details

• Entrez Gene ID: 55075
• Gene Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
• Gene Aliases: NUCLING
• Location: Chr.15:70654554-70778823 on Build GRCh38
• Assay Gene Location: Overlaps Intron 19 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UACA	NM_001008224.1			NP_001008225.1
	NM_018003.2			NP_060473.2
	XM_005254529.4			XP_005254586.1
	XM_011521752.2			XP_011520054.2
	XM_011521753.2			XP_011520055.2
	XM_011521754.2			XP_011520056.1
	XM_017022394.1			XP_016877883.1
	XM_017022395.1			XP_016877884.1
	AB046781.2			BAB13387.2
	AF322916.1			AAG49577.1
	AL834464.1			CAD39123.1
	BC113407.1
	BC113409.1
	BC143266.1
	BC143267.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1594	Chr.15:70645257 - 70677701 on Build GRCh38	Insertion	UACA
nsv833049	Chr.15:70582449 - 70687237 on Build GRCh38	Loss	SALRNA3 LOC101929151 SALRNA2 UACA
nsv1035437	Chr.15:70644099 - 70746740 on Build GRCh38	Loss	UACA

More Information

Additional Information:

For this assay, SNP(s) [rs78551559] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process
apoptotic signaling pathway
regulation of NIK/NF-kappaB signaling

Function(s)

molecular_function
protein binding