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

OMIM: https://www.omim.org/entry/118470

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=376877

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)