Basic Information
CST3
Full name: corticotropin releasing hormone receptor 1
Gene type: protein coding
HGNC ID: HGNC:2357
Gene location: 17q21.31
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/1394
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:2357
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_004382.5
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P34998
AlphaFold: https://alphafold.ebi.ac.uk/entry/P34998
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa04970+1471
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
CST3 | exudative AMD | Missense Variant | rs1064039 | C>G / C>T | chr20:23637790 (GRCh38.p13) |