Basic Information

ABCG1

Full name: ATP binding cassette subfamily G member 1

Gene type: protein coding

HGNC ID: HGNC:73

Gene location: 21q22.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/9619

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:73

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_016818.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P45844

AlphaFold: https://alphafold.ebi.ac.uk/entry/P45844

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/603076

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=9619

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa02010+9619

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
ABCG1 nAMD Intron Variant rs57137919 G>A chr21:42218908 (GRCh38.p13)
ABCG1 Intron Variant rs9976024 G>A chr21:42221547 (GRCh38.p13)
ABCG1 Intron Variant rs881395 C>T chr21:42232300 (GRCh38.p13)
ABCG1 Intron Variant rs225374 C>G / C>T chr21:42251523 (GRCh38.p13)
ABCG1 Intron Variant rs225378 A>G chr21:42255584 (GRCh38.p13)
ABCG1 rs183436
ABCG1 Intron Variant rs225396 C>T chr21:42267244 (GRCh38.p13)
ABCG1 Intron Variant rs225398 G>C chr21:42268484 (GRCh38.p13)
ABCG1 Intron Variant rs3787997 G>A / G>C / G>T chr21:42278986 (GRCh38.p13)
ABCG1 Intron Variant rs225410 C>T chr21:42280797 (GRCh38.p13)
ABCG1 Intron Variant rs2234721 G>C / G>T chr21:42289986 (GRCh38.p13)
ABCG1 Intron Variant rs9975333 A>C / A>G chr21:42294407 (GRCh38.p13)