Basic Information

ROBO1

Full name: roundabout guidance receptor 1

Gene type: protein coding

HGNC ID: HGNC:10249

Gene location: 3p12.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/6091

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:10249

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002941.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9Y6N7

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9Y6N7

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/602430

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=6091

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04360+6091

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
ROBO1 wAMD Intron Variant rs1387665 G>A / G>T chr3:79380661 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs13076006 A>C / A>G / A>T chr3:79403486 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs4513416 C>T chr3:79441653 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs9810404 C>T chr3:79455922 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7640053 C>A / C>T chr3:79482121 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7615149 C>A chr3:79488623 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7622888 T>A / T>C chr3:79492746 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs4264688 C>T chr3:79497198 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs6548621 A>C / A>G chr3:79501223 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7622444 A>G chr3:79508777 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs9832405 G>A / G>C chr3:79510764 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7637338 G>A / G>T chr3:79511454 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs6548625 C>A / C>G / C>T chr3:79514837 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7623809 A>G / A>T chr3:79519823 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs4279056 G>A / G>T chr3:79532100 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs9826366 G>A chr3:79539373 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs3923526 A>T chr3:79734978 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs9309833 A>G / A>T chr3:79762569 (GRCh38.p13)
ROBO1 wAMD Intron Variant rs7629503 G>C / G>T chr3:79764142 (GRCh38.p13)