Assay Details
Target Gene Details
Entrez Gene ID: | 100130872 |
Gene Name: | uncharacterized LOC100130872 |
Gene Aliases: |
- |
Location: |
Chr.4:1195783-1208962 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC100130872 | NR_024569.1 | 4 | 3908 | |
AK091779.1 | BAC03745.1 | |||
AK122772.1 | 1 | 960 |
Target Gene Details
Entrez Gene ID: | 10417 |
Gene Name: | spondin 2 |
Gene Aliases: |
DIL-1, DIL1, M-SPONDIN, MINDIN |
Location: |
Chr.4:1166932-1208962 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPON2 | NM_001199021.1 | NP_001185950.1 | ||
DA201089.1 | ||||
DB249869.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv8891n54 | Chr.4:1181073 - 1261142 on Build GRCh38 | Loss | LOC101928548 LOC100130872 CTBP1-AS2 CTBP1 CTBP1-AS SPON2 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | MAEA MYL5 LOC100130872 LOC107986211 RNF212 PCGF3 TMEM175 CTBP1-AS2 ATP5I LOC101928521 LOC100129917 UVSSA MFSD7 LOC101928548 CPLX1 SLC26A1 DGKQ TMED11P FGFRL1 GAK SPON2 IDUA LOC105374344 CRIPAK CTBP1 NKX1-1 PDE6B CTBP1-AS |
nsv593278 | Chr.4:1165892 - 1421910 on Build GRCh38 | Loss | CRIPAK MAEA LOC101928548 LOC100130872 CTBP1-AS2 CTBP1 NKX1-1 CTBP1-AS SPON2 UVSSA |
nsv950331 | Chr.4:1164113 - 1239212 on Build GRCh38 | Deletion | LOC101928548 LOC100130872 CTBP1 CTBP1-AS SPON2 |
nsv508988 | Chr.4:1190955 - 1358870 on Build GRCh38 | Insertion | MAEA LOC101928548 LOC100130872 CTBP1-AS2 CTBP1 CTBP1-AS SPON2 UVSSA |
nsv829835 | Chr.4:1103798 - 1310451 on Build GRCh38 | Gain | MAEA LOC101928548 LOC100130872 CTBP1-AS2 CTBP1 RNF212 CTBP1-AS TMED11P SPON2 LOC105374344 |
More Information
Additional Information:
For this assay, SNP(s) [rs139353580,rs73793110] 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 Intronic Non-exonic DGV Variation |