Product Details

Assay Reference Genome
Location

Chr.4:1370567 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 15
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
AK292661.1
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 RNF212 SPON2 CRIPAK PDE6B IDUA GAK LOC100130872 NKX1-1 LOC105374344 UVSSA MYL5 ATP5I SLC26A1 LOC101928521 CTBP1-AS2 CTBP1-AS PCGF3 TMEM175 FGFRL1 CPLX1 LOC101928548 MFSD7 LOC100129917 LOC107986211 MAEA DGKQ TMED11P CTBP1
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss CTBP1-AS2 SPON2 CRIPAK UVSSA CTBP1-AS MAEA LOC101928548 LOC100130872 NKX1-1 CTBP1
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss CRIPAK UVSSA NKX1-1

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