Basic Information

ABCA4

Full name: ATP binding cassette subfamily A member 4

Gene type: protein coding

HGNC ID: HGNC:34

Gene location: 1p22.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/24

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:34

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000350.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P78363

AlphaFold: https://alphafold.ebi.ac.uk/entry/P78363

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/601691

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=24

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa02010+24

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
ABCA4	AMD	Missense Variant	rs76157638	C>G / C>T	chr1:94051698 (GRCh38.p13)
ABCA4	AMD	Missense Variant	rs3112831	T>C / T>G	chr1:94078678 (GRCh38.p13)
ABCA4	AMD	Missense Variant	rs1800555	C>G / C>T	chr1:93998061 (GRCh38.p13)
ABCA4	AMD	missense variations	rs749025898	2633C>A
ABCA4	AMD	missense variations	rs1663062557	5646G>A
ABCA4	AMD	Intron Variant	rs2297634		chr1:94111412 (GRCh38.p13)