Hs06943703_cn

• Gene Symbol: BLOC1S1-RDH5
• Assay Reference Genome Location: Chr.12:55722918 on build GRCh38
• Cytoband: 12q13.2

Target Gene Details

• Entrez Gene ID: 100528022
• Gene Name: BLOC1S1-RDH5 readthrough
• Gene Aliases: -
• Location: Chr.12:55716034-55724742 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BLOC1S1-RDH5	NR_037658.1
	AK096656.1	4	1581
	BG722558.1

Target Gene Details

• Entrez Gene ID: 5959
• Gene Name: retinol dehydrogenase 5
• Gene Aliases: 9cRDH, HSD17B9, RDH1, SDR9C5
• Location: Chr.12:55720367-55724742 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH5	NM_001199771.1			NP_001186700.1
	NM_002905.3			NP_002896.2
	BC028298.1			AAH28298.1
	BI765016.1
	U43559.1			AAC50725.1
	U89717.1			AAB93668.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv832423	Chr.12:55687038 - 55859914 on Build GRCh38	Gain	GDF11 ORMDL2 BLOC1S1 DNAJC14 CD63 SARNP BLOC1S1-RDH5 TMEM198B RDH5 ITGA7 MMP19
nsv559004	Chr.12:55704254 - 55777109 on Build GRCh38	Loss	GDF11 BLOC1S1 CD63 SARNP BLOC1S1-RDH5 RDH5 ITGA7
nsv525231	Chr.12:55683135 - 55730548 on Build GRCh38	Loss	METTL7B BLOC1S1 CD63 BLOC1S1-RDH5 RDH5 ITGA7

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

retinoid metabolic process
visual perception
retinol metabolic process
response to stimulus
oxidation-reduction process

Function(s)

retinol dehydrogenase activity