Hs04067488_cn

• Gene Symbol: COL18A1
• Assay Reference Genome Location: Chr.21:45508702 on build GRCh38
• Cytoband: 21q22.3

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 39

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
	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	COL18A1-AS1 MIR6815 LOC105372840 COL18A1 SLC19A1
esv2762114	Chr.21:45260287 - 45647830 on Build GRCh38	Gain	COL18A1-AS1 LOC107985476 LINC00316 LOC642852 LINC00205 MIR6815 COL18A1-AS2 POFUT2 LOC105372840 COL18A1 SLC19A1
nsv953653	Chr.21:45409686 - 45560386 on Build GRCh38	Deletion	COL18A1-AS1 MIR6815 COL18A1-AS2 COL18A1 SLC19A1
esv3893419	Chr.21:45463239 - 45625553 on Build GRCh38	Gain	MIR6815 LOC105372840 COL18A1 SLC19A1
dgv4437n100	Chr.21:45453955 - 45546266 on Build GRCh38	Gain	MIR6815 COL18A1 SLC19A1
nsv834111	Chr.21:45423171 - 45585330 on Build GRCh38	Loss	COL18A1-AS1 MIR6815 COL18A1 SLC19A1
nsv587855	Chr.21:45506637 - 45517044 on Build GRCh38	Loss	COL18A1 SLC19A1
nsv587853	Chr.21:45506179 - 45562421 on Build GRCh38	Loss	COL18A1 SLC19A1
nsv1061760	Chr.21:45466796 - 45511534 on Build GRCh38	Gain	MIR6815 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
nsv834112	Chr.21:45502237 - 45628339 on Build GRCh38	Gain	LOC105372840 COL18A1 SLC19A1
dgv4436n100	Chr.21:45402338 - 45556768 on Build GRCh38	Gain	COL18A1-AS1 MIR6815 COL18A1-AS2 COL18A1 SLC19A1
nsv459308	Chr.21:45495128 - 45517044 on Build GRCh38	Loss	COL18A1 SLC19A1
nsv587854	Chr.21:45506383 - 45512201 on Build GRCh38	Loss	COL18A1 SLC19A1

More Information

Additional Information:

For this assay, SNP(s) [rs114834044] 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:

Molecular Function -

extracellular matrix structural protein, transporter

Gene Ontology Categories:

Process(es)

angiogenesis
endothelial cell morphogenesis
cell adhesion
visual perception
positive regulation of cell proliferation
negative regulation of cell proliferation
organ morphogenesis
extracellular matrix organization
positive regulation of cell migration
collagen catabolic process
response to drug
response to hydrostatic pressure
positive regulation of endothelial cell apoptotic process
female pregnancy
folic acid transport
folic acid metabolic process
methotrexate transport
reduced folate transmembrane transport

Function(s)

structural molecule activity
metal ion binding
folic acid binding
folic acid transporter activity
reduced folate carrier activity
methotrexate transporter activity