Product Details

Assay Reference Genome
Location

Chr.4:1365604 on build GRCh38
Cytoband
4p16.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs114456306] 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 Intron 14
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_017008498.1 XP_016863987.1
XM_017008500.1 XP_016863989.1
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
nsv950332 Chr4:1364213 - 1367912 on Build GRCh38 Deletion UVSSA
nsv822425 Chr4:546316 - 1420011 on Build GRCh38 Loss MYL5 ATP5I SLC26A1 LOC101928548 MFSD7 CPLX1 LOC101928521 PCGF3 RNF212 LOC100130872 PDE6B LOC105374344 LOC100129917 FGFRL1 DGKQ CTBP1-AS2 MAEA UVSSA SPON2 CRIPAK TMED11P CTBP1-AS CTBP1 LOC107986211 IDUA GAK NKX1-1 TMEM175
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss CTBP1-AS CTBP1 CTBP1-AS2 MAEA UVSSA SPON2 LOC101928548 NKX1-1 CRIPAK LOC100130872
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss UVSSA NKX1-1 CRIPAK

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