Product Details

Assay Reference Genome
Location

Chr.4:1361948 on build GRCh38
Cytoband
4p16.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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 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_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 TMED11P UVSSA FGFRL1 MYL5 CPLX1 CRIPAK PDE6B ATP5I DGKQ LOC100129917 CTBP1-AS2 NKX1-1 LOC101928548 SPON2 LOC107986211 RNF212 PCGF3 LOC100130872 SLC26A1 CTBP1 MAEA CTBP1-AS GAK TMEM175 MFSD7 LOC105374344 LOC101928521
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss UVSSA MAEA CTBP1-AS CRIPAK LOC100130872 CTBP1 CTBP1-AS2 NKX1-1 LOC101928548 SPON2
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss UVSSA CRIPAK NKX1-1

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