Product Details

Assay Reference Genome Location: Chr.4:1359037 on build GRCh38
Cytoband: 4p16.3
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs76820240] 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.

Target Gene Details

Entrez Gene ID: 57654
Gene Symbol: UVSSA
Gene Name: UV stimulated scaffold protein A
Gene Aliases: KIAA1530, UVSS3
Location: Chr.4:1345662-1388049 on build GRCh38
Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
UVSSA	NM_001317934.1			NP_001304863.1
	NM_001317935.1			NP_001304864.1
	NM_020894.3			NP_065945.2
	XM_017008490.1			XP_016863979.1
	XM_017008491.1			XP_016863980.1
	XM_017008492.1			XP_016863981.1
	XM_017008493.1			XP_016863982.1
	XM_017008494.1			XP_016863983.1
	XM_017008495.1			XP_016863984.1
	XM_017008496.1	9	4766	XP_016863985.1
	XM_017008498.1			XP_016863987.1
	AB040963.1
	BC110331.1			AAI10332.1
	BC140901.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv822425	Chr4:546316 - 1420011 on Build GRCh38	Loss	IDUA UVSSA CRIPAK TMEM175 NKX1-1 ATP5I GAK CTBP1 CTBP1-AS LOC107986211 LOC100129917 SPON2 PCGF3 TMED11P PDE6B SLC26A1 FGFRL1 LOC101928548 LOC101928521 MAEA LOC105374344 CTBP1-AS2 LOC100130872 RNF212 CPLX1 MFSD7 DGKQ MYL5
nsv593278	Chr4:1165892 - 1421910 on Build GRCh38	Loss	CTBP1 LOC101928548 CTBP1-AS UVSSA MAEA CRIPAK CTBP1-AS2 LOC100130872 SPON2 NKX1-1
nsv593302	Chr4:1344830 - 1420896 on Build GRCh38	Loss	UVSSA CRIPAK NKX1-1

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