Hs01531819_cn

• Gene Symbol: ABCA4
• Assay Reference Genome Location: Chr.1:93993042 on build GRCh38
• Cytoband: 1p22.1

Target Gene Details

• Entrez Gene ID: 24
• Gene Name: ATP binding cassette subfamily A member 4
• Gene Aliases: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
• Location: Chr.1:93992837-94121149 on Build GRCh38
• Assay Gene Location: Within Exon 50

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA4	NM_000350.2	50	7121	NP_000341.2
	AB210040.1	50	7107
	AF000148.1	50	7104	AAC23915.1
	AF001945.1	50	7098	AAC05632.1
	AK296896.1	16	2344
	CR627391.1	28	3533	CAH10486.1
	U88667.1	50	7098	AAC51144.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516137	Chr.1:93938682 - 94038989 on Build GRCh38	Loss	ABCA4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

retinoid metabolic process
phospholipid transfer to membrane
transport
lipid transport
visual perception
phototransduction, visible light
phospholipid translocation
photoreceptor cell maintenance
transmembrane transport

Function(s)

phospholipid-translocating ATPase activity
transporter activity
eye pigment precursor transporter activity
ATP binding
ATPase activity, coupled to transmembrane movement of substances