Basic Information
CFP
Full name: complement factor properdin
Gene type: protein coding
HGNC ID: HGNC:8864
Gene location: Xp11.23
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/5199
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:8864
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001145252.3
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P27918
AlphaFold: https://alphafold.ebi.ac.uk/entry/P27918
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa05168+5199
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
CFP | Intron Variant | rs909523 | C>A | chrX:47627087 (GRCh38.p13) | |
CFP | Intron Variant | rs7060246 | C>T | chrX:47625441 (GRCh38.p13) |