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See other UVSSA CNV Assays ›
Gene Symbol
UVSSA
Assay Reference Genome
Location

Chr.4:1353125 on build GRCh38
Cytoband
4p16.3
Assay ID Hs00504931_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 57654

Gene Name:

 UV stimulated scaffold protein A

Gene Aliases:

 KIAA1530, UVSS3

Location:

 Chr.4:1345662-1388049 on Build GRCh38

Assay Gene Location:

 Within Exon 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
UVSSA NM_001317934.1 5 992 NP_001304863.1
NM_001317935.1 5 980 NP_001304864.1
NM_020894.3 5 1093 NP_065945.2
XM_017008490.1 5 814 XP_016863979.1
XM_017008491.1 5 906 XP_016863980.1
XM_017008492.1 5 904 XP_016863981.1
XM_017008493.1 5 780 XP_016863982.1
XM_017008494.1 5 665 XP_016863983.1
XM_017008495.1 2 807 XP_016863984.1
XM_017008496.1 5 1417 XP_016863985.1
XM_017008497.1 5 1416 XP_016863986.1
XM_017008498.1 4 648 XP_016863987.1
XM_017008499.1 5 921 XP_016863988.1
AB040963.1 5 1093
BC110331.1 5 992 AAI10332.1
BC140901.1 5 830

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss CRIPAK MFSD7 CTBP1 PDE6B CTBP1-AS2 LOC101928548 CTBP1-AS NKX1-1 SPON2 LOC105374344 MAEA UVSSA MYL5 IDUA CPLX1 SLC26A1 RNF212 TMED11P LOC100130872 TMEM175 PCGF3 LOC100129917 LOC107986211 LOC101928521 GAK DGKQ FGFRL1 ATP5I
nsv593278 Chr.4:1165892 - 1421910 on Build GRCh38 Loss CRIPAK MAEA CTBP1 CTBP1-AS2 UVSSA LOC100130872 LOC101928548 CTBP1-AS NKX1-1 SPON2
nsv593301 Chr.4:1306289 - 1358897 on Build GRCh38 Loss MAEA UVSSA
nsv593302 Chr.4:1344830 - 1420896 on Build GRCh38 Loss CRIPAK UVSSA NKX1-1
nsv508988 Chr.4:1190955 - 1358870 on Build GRCh38 Insertion MAEA CTBP1 CTBP1-AS2 UVSSA LOC100130872 LOC101928548 CTBP1-AS SPON2
nsv593281 Chr.4:1209477 - 1358897 on Build GRCh38 Loss MAEA CTBP1 CTBP1-AS2 UVSSA CTBP1-AS

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More Information


Additional Information:

For this assay, SNP(s) [rs77892061] 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.

Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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