Basic Information

ABCA1

Full name: ATP binding cassette subfamily A member 1

Gene type: protein coding

HGNC ID: HGNC:29

Gene location: 9q31.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/19

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:29

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_005502.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/O95477

AlphaFold: https://alphafold.ebi.ac.uk/entry/O95477

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/600046

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=19

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa02010+10349

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
ABCA1 AMD Intron Variant rs1883025 C>T chr9:104902020 (GRCh38.p13)
ABCA1 nAMD Missense Variant rs2230808 T>A / T>C chr9:104800523 (GRCh38.p13)
ABCA1 nAMD Missense Variant rs2066715 C>T chr9:104825752 (GRCh38.p13)
ABCA1 nAMD Missense Variant rs2066718 C>G / C>T chr9:104826974 (GRCh38.p13)
ABCA1 AMD Intron Variant rs3758294 T>A / T>C / T>G chr9:104902534 (GRCh38.p13)
ABCA1 AMD Intron Variant rs2740488 A>C chr9:104899461 (GRCh38.p13)
ABCA1 PCV 3 Prime UTR Variant rs4149340 G>A chr9:104782404 (GRCh38.p13) Help
ABCA1 PCV Non Coding Transcript Variant rs1800978 C>A / C>G / C>T chr9:104903697 (GRCh38.p13)
ABCA1 AMD Intron Variant rs2254884 A>C / A>G / A>T chr9:104819468 (GRCh38.p13)
ABCA1 AMD Intron Variant rs2297406 C>T chr9:104789257 (GRCh38.p13)
ABCA1 AMD 500B Downstream Variant rs2482432 T>C chr9:104780891 (GRCh38.p13)
ABCA1 AMD Intron Variant rs2515614 A>C / A>T chr9:104922037 (GRCh38.p13)
ABCA1 AMD Intron Variant rs2740484 C>T chr9:104788899 (GRCh38.p13)
ABCA1 AMD Intron Variant rs4149263 A>G chr9:104915008 (GRCh38.p13)
ABCA1 AMD 3 Prime UTR Variant rs4149338 G>A / G>C chr9:104783622 (GRCh38.p13)
ABCA1 AMD stage 2