Hs02802722_cn

• Gene Symbol: NT5C1B-RDH14
• Assay Reference Genome Location: Chr.2:18554835 on build GRCh38
• Cytoband: 2p24.2

Target Gene Details

• Entrez Gene ID: 100526794
• Gene Name: NT5C1B-RDH14 readthrough
• Gene Aliases: -
• Location: Chr.2:18554723-18589580 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NT5C1B-RDH14	NM_001199103.1	9	2421	NP_001186032.1
	NM_001199104.1	11	2870	NP_001186033.1

Target Gene Details

• Entrez Gene ID: 57665
• Gene Name: retinol dehydrogenase 14 (all-trans/9-cis/11-cis)
• Gene Aliases: PAN2, SDR7C4
• Location: Chr.2:18554723-18560693 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH14	NM_020905.3	2	1488	NP_065956.1
	AF237952.1	2	1430	AAG12190.1
	AK023625.1	1	1815
	AY358511.1	2	1431	AAQ88875.1
	CD676669.1	1	412

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3589966	Chr.2:18553483 - 18559483 on Build GRCh38	Loss	NT5C1B-RDH14 RDH14
esv2751837	Chr.2:18240747 - 18831848 on Build GRCh38	Gain	NT5C1B NT5C1B-RDH14 RDH14
nsv2624	Chr.2:18527911 - 18562908 on Build GRCh38	Insertion	NT5C1B NT5C1B-RDH14 RDH14
nsv581114	Chr.2:18200727 - 18615490 on Build GRCh38	Gain	NT5C1B NT5C1B-RDH14 RDH14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

osteoblast differentiation
retinol metabolic process
oxidation-reduction process

Function(s)

oxidoreductase activity
NADP-retinol dehydrogenase activity