Product Details

Assay Reference Genome
Location

Chr.4:1357504 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 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 3233 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 CTBP1 CPLX1 SLC26A1 MYL5 MFSD7 DGKQ PCGF3 TMED11P GAK LOC100129917 PDE6B LOC105374344 MAEA LOC100130872 UVSSA ATP5I CRIPAK FGFRL1 NKX1-1 TMEM175 LOC107986211 LOC101928521 RNF212 CTBP1-AS IDUA LOC101928548 SPON2 CTBP1-AS2
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss CTBP1 CRIPAK NKX1-1 CTBP1-AS LOC101928548 SPON2 CTBP1-AS2 MAEA LOC100130872 UVSSA
nsv593301 Chr4:1306289 - 1358897 on Build GRCh38 Loss MAEA UVSSA
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss CRIPAK NKX1-1 UVSSA
nsv508988 Chr4:1190955 - 1358870 on Build GRCh38 Insertion CTBP1 CTBP1-AS LOC101928548 SPON2 CTBP1-AS2 MAEA LOC100130872 UVSSA
nsv593281 Chr4:1209477 - 1358897 on Build GRCh38 Loss CTBP1 CTBP1-AS CTBP1-AS2 MAEA UVSSA

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