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See other COL18A1 CNV Assays ›
Gene Symbol
COL18A1
Assay Reference Genome
Location

Chr.21:45408830 on build GRCh38
Cytoband
21q22.3
Assay ID Hs04073601_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 100874236

Gene Name:

 COL18A1 antisense RNA 2

Gene Aliases:

 -

Location:

 Chr.21:45407386-45410065 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COL18A1-AS2 NR_052004.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2762114 Chr.21:45260287 - 45647830 on Build GRCh38 Gain COL18A1 LINC00205 LOC107985476 COL18A1-AS2 LOC642852 LOC105372840 COL18A1-AS1 SLC19A1 LINC00316 POFUT2 MIR6815
nsv1057607 Chr.21:45333418 - 45463244 on Build GRCh38 Gain COL18A1 COL18A1-AS2 COL18A1-AS1 LINC00316
dgv4436n100 Chr.21:45402338 - 45556768 on Build GRCh38 Gain COL18A1 COL18A1-AS2 COL18A1-AS1 SLC19A1 MIR6815
dgv7899n54 Chr.21:45160455 - 45419989 on Build GRCh38 Gain COL18A1 LINC00205 LOC107985476 COL18A1-AS2 LOC642852 COL18A1-AS1 LINC00334 LINC00316 POFUT2 ADARB1
nsv520123 Chr.21:45329803 - 45410958 on Build GRCh38 Gain COL18A1 COL18A1-AS2 LINC00316
nsv470909 Chr.21:45300095 - 45428674 on Build GRCh38 Gain COL18A1 COL18A1-AS2 COL18A1-AS1 LINC00316

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More Information


Additional Information:

For this assay, SNP(s) [rs112253173] 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 Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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