Basic Information
CETP
Full name: cholesteryl ester transfer protein
Gene type: protein coding
HGNC ID: HGNC:1869
Gene location: 16q13
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/1071
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1869
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000078.3
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P11597
AlphaFold: https://alphafold.ebi.ac.uk/entry/P11597
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa04979+1071
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
CETP | AMD | rs3764261 | |||
CETP | nAMD | Missense Variant | rs5882 | G>A / G>C | chr16:56982180 (GRCh38.p13) |
CETP | nAMD | Missense Variant | rs2303790 | A>G | chr16:56983380 (GRCh38.p13) |
CETP | Exudative AMD | Intron Variant | rs708272 | G>A / G>C | chr16:56962376 (GRCh38.p13) |
CETP | 2KB Upstream Variant | rs1800775 | C>A / C>G | chr16:56961324 (GRCh38.p13) | |
CETP | AMD | N/A | rs173539 | C>T | chr16:56954132 (GRCh38.p13) |
CETP | AMD | N/A | rs9989419 | A>G / A>T | chr16:56951227 (GRCh38.p13) |
CETP | AMD | Missense Variant | rs5880 | G>A / G>C | chr16:56981179 (GRCh38.p13) |
CETP | Intron Variant | rs1864163 | G>A | chr16:56963321 (GRCh38.p13) | |
CETP | AMD | Intron Variant | rs5817082 | dupA | chr16:56963438-56963439 (GRCh38.p13) |