Basic Information

AGER

Full name: advanced glycosylation end-product specific receptor

Gene type: protein coding

HGNC ID: HGNC:320

Gene location: 6p21.32

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/177

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:320

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001136.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q15109

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q15109

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/600214

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=177

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa00510+1650

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
AGER	Atrophic AMD	2KB Upstream Variant	rs1800624	A>G / A>T	chr6:32184610 (GRCh38.p13)
AGER	Atrophic AMD	2KB Upstream Variant	rs1800625	A>G	chr6:32184665 (GRCh38.p13)