Product Details

Assay Reference Genome
Location

Chr.4:1358412 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 4141 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 TMED11P TMEM175 LOC107986211 LOC101928521 MYL5 LOC101928548 MFSD7 SPON2 SLC26A1 ATP5I CTBP1 DGKQ CTBP1-AS2 LOC105374344 RNF212 PCGF3 UVSSA NKX1-1 CPLX1 GAK MAEA FGFRL1 LOC100130872 CTBP1-AS IDUA LOC100129917 CRIPAK PDE6B
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss UVSSA LOC100130872 NKX1-1 CTBP1 LOC101928548 CTBP1-AS CTBP1-AS2 CRIPAK SPON2 MAEA
nsv593301 Chr4:1306289 - 1358897 on Build GRCh38 Loss UVSSA MAEA
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss UVSSA NKX1-1 CRIPAK
nsv508988 Chr4:1190955 - 1358870 on Build GRCh38 Insertion UVSSA LOC100130872 CTBP1 LOC101928548 CTBP1-AS CTBP1-AS2 SPON2 MAEA
nsv593281 Chr4:1209477 - 1358897 on Build GRCh38 Loss UVSSA CTBP1 CTBP1-AS CTBP1-AS2 MAEA

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