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Gene Information
Gene ID:58488
Full Name:phosphatidylcholine transfer protein
Organism:Homo sapiens (Human)
Genetic Location:17q21-q24
Physical Location:51183354-51209746 on NC_000017.9
Gene Type:protein-coding
Orthologs:This gene has Rat: 29510 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene SNP Information
SNPAbuser/Control RatioCluster
rs10515112      dbSNP0.7650
Association Dataset
Publication:Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_001102402.1NP_001095872.1NC_000017.9 range: 51183354..51209746
NM_021213.2NP_067036.2NC_000017.9 range: 51183354..51209746
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005737cytoplasmCellular ComponentIEA
GO:0005829cytosolCellular ComponentNAS (10542325)
GO:0008289lipid bindingMolecular FunctionIEA
GO:0008525phosphatidylcholine transmembrane transporter activityMolecular FunctionTAS (10500206|10542325)
GO:0006869lipid transportBiological ProcessNAS (10542325)
Other Database Cross Links
NCBI Entrez Gene:58488
HuGE Navigator:58488