Assay Details
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 Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPON2 | NM_001128325.2 | 7 | 1747 | NP_001121797.1 |
NM_001199021.1 | 8 | 2101 | NP_001185950.1 | |
NM_012445.3 | 6 | 1805 | NP_036577.1 | |
AA864573.1 | 1 | 79 | ||
AB027466.1 | 6 | 1751 | BAA85892.1 | |
AK024499.1 | 2 | 4237 | BAB15789.1 | |
AK026054.1 | 1 | 2746 | ||
AK074618.1 | 6 | 1612 | BAC11092.1 | |
AK074770.1 | 6 | 1743 | BAC11196.1 | |
AK130164.1 | 6 | 1523 | ||
AY358948.1 | 6 | 1750 | AAQ89307.1 | |
BC002707.2 | 6 | 1535 | AAH02707.1 | |
BC036341.1 | 6 | 1744 | AAH36341.1 |
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 | IDUA LOC101928521 UVSSA FGFRL1 DGKQ TMED11P MFSD7 CRIPAK MAEA ATP5I GAK LOC100129917 LOC101928548 LOC100130872 SPON2 PCGF3 LOC107986211 TMEM175 NKX1-1 CTBP1-AS2 LOC105374344 RNF212 MYL5 SLC26A1 CTBP1-AS PDE6B CTBP1 CPLX1 |
nsv593278 | Chr.4:1165892 - 1421910 on Build GRCh38 | Loss | CTBP1-AS2 CRIPAK MAEA CTBP1-AS UVSSA CTBP1 LOC101928548 LOC100130872 NKX1-1 SPON2 |
nsv950331 | Chr.4:1164113 - 1239212 on Build GRCh38 | Deletion | CTBP1-AS CTBP1 LOC101928548 LOC100130872 SPON2 |
nsv519106 | Chr.4:1165203 - 1181073 on Build GRCh38 | Loss | SPON2 |
nsv1012892 | Chr.4:1093083 - 1182842 on Build GRCh38 | Loss | LOC105374344 RNF212 TMED11P SPON2 |
nsv829835 | Chr.4:1103798 - 1310451 on Build GRCh38 | Gain | CTBP1-AS2 LOC105374344 RNF212 TMED11P MAEA CTBP1-AS CTBP1 LOC101928548 LOC100130872 SPON2 |
More Information
Additional Information:
For this assay, SNP(s) [rs367555804] 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 |