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

Chr.21:45506941 on build GRCh38
Cytoband
21q22.3
Assay ID Hs04076582_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 38
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COL18A1 NM_030582.3 NP_085059.2
NM_130444.2 NP_569711.2
NM_130445.3 NP_569712.2
AF018081.1 AAC39658.1
AF018082.1 AAC39659.1
AK098216.1 2 879
AK130835.1
BC033715.1 AAH33715.1
BC063833.1 AAH63833.1
L22548.1 AAA51864.1

Target Gene Details

Entrez Gene ID:

 6573

Gene Name:

 solute carrier family 19 member 1

Gene Aliases:

 CHMD, FOLT, IFC1, REFC, RFC1

Location:

 Chr.21:45502517-45563143 on Build GRCh38

Assay Gene Location:

 Within Intron 16
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SLC19A1 XM_017028445.1 XP_016883934.1
AB209069.1 BAD92306.1
AK310797.1

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 SLC19A1 COL18A1-AS1 LOC105372840
esv2762114 Chr.21:45260287 - 45647830 on Build GRCh38 Gain COL18A1-AS2 MIR6815 LINC00316 COL18A1 SLC19A1 COL18A1-AS1 POFUT2 LINC00205 LOC107985476 LOC642852 LOC105372840
nsv953653 Chr.21:45409686 - 45560386 on Build GRCh38 Deletion COL18A1-AS2 MIR6815 COL18A1 SLC19A1 COL18A1-AS1
esv3893419 Chr.21:45463239 - 45625553 on Build GRCh38 Gain MIR6815 COL18A1 SLC19A1 LOC105372840
dgv4437n100 Chr.21:45453955 - 45546266 on Build GRCh38 Gain MIR6815 COL18A1 SLC19A1
nsv834111 Chr.21:45423171 - 45585330 on Build GRCh38 Loss MIR6815 COL18A1 SLC19A1 COL18A1-AS1
nsv587853 Chr.21:45506179 - 45562421 on Build GRCh38 Loss COL18A1 SLC19A1
nsv587856 Chr.21:45506637 - 45525426 on Build GRCh38 Loss COL18A1 SLC19A1
nsv1061760 Chr.21:45466796 - 45511534 on Build GRCh38 Gain MIR6815 COL18A1 SLC19A1
dgv721e201 Chr.21:45506486 - 45507080 on Build GRCh38 Deletion COL18A1 SLC19A1
dgv7903n54 Chr.21:45496498 - 45540367 on Build GRCh38 Loss COL18A1 SLC19A1
dgv4438n100 Chr.21:45462733 - 45559862 on Build GRCh38 Gain MIR6815 COL18A1 SLC19A1
dgv4436n100 Chr.21:45402338 - 45556768 on Build GRCh38 Gain COL18A1-AS2 MIR6815 COL18A1 SLC19A1 COL18A1-AS1
nsv834112 Chr.21:45502237 - 45628339 on Build GRCh38 Gain COL18A1 SLC19A1 LOC105372840
nsv587851 Chr.21:45495128 - 45517044 on Build GRCh38 Loss COL18A1 SLC19A1
esv2723781 Chr.21:45506929 - 45507801 on Build GRCh38 Deletion COL18A1 SLC19A1
esv2723780 Chr.21:45506725 - 45506897 on Build GRCh38 Deletion COL18A1 SLC19A1
nsv587854 Chr.21:45506383 - 45512201 on Build GRCh38 Loss COL18A1 SLC19A1
esv2723778 Chr.21:45506510 - 45507801 on Build GRCh38 Deletion COL18A1 SLC19A1

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