Assay Details
Target Gene Details
Entrez Gene ID: | 80781 |
Gene Name: | collagen type XVIII alpha 1 chain |
Gene Aliases: |
KNO, KNO1, KS |
Location: |
Chr.21:45405137-45513720 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COL18A1 | NM_130445.3 | NP_569712.2 | ||
AF018082.1 | AAC39659.1 | |||
AK130835.1 | ||||
BC063833.1 | AAH63833.1 | |||
CN389577.1 |
Target Gene Details
Entrez Gene ID: | 378832 |
Gene Name: | COL18A1 antisense RNA 1 |
Gene Aliases: |
C21orf123, NCRNA00175, PRED80 |
Location: |
Chr.21:45419716-45425070 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COL18A1-AS1 | NR_027498.1 | 2 | 281 | |
NR_028082.1 | 2 | 1365 | ||
AK096071.1 | 2 | 281 | BAC04694.1 | |
BC111539.2 | 2 | 1365 | AAI11540.1 | |
BC111540.2 | 2 | 251 | AAI11541.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516407 | Chr.21:45410958 - 45620742 on Build GRCh38 | Loss | MIR6815 COL18A1-AS1 SLC19A1 COL18A1 LOC105372840 |
esv2762114 | Chr.21:45260287 - 45647830 on Build GRCh38 | Gain | MIR6815 COL18A1-AS1 LINC00205 SLC19A1 COL18A1 LOC105372840 LOC642852 LINC00316 POFUT2 LOC107985476 COL18A1-AS2 |
nsv953653 | Chr.21:45409686 - 45560386 on Build GRCh38 | Deletion | MIR6815 COL18A1-AS1 SLC19A1 COL18A1 COL18A1-AS2 |
nsv1057607 | Chr.21:45333418 - 45463244 on Build GRCh38 | Gain | COL18A1-AS1 COL18A1 LINC00316 COL18A1-AS2 |
dgv4436n100 | Chr.21:45402338 - 45556768 on Build GRCh38 | Gain | MIR6815 COL18A1-AS1 SLC19A1 COL18A1 COL18A1-AS2 |
nsv470909 | Chr.21:45300095 - 45428674 on Build GRCh38 | Gain | COL18A1-AS1 COL18A1 LINC00316 COL18A1-AS2 |
More Information
Additional Information:
For this assay, SNP(s) [rs79087200] 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 |