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Gene Information
Gene ID:54504
Symbol:CPVL
Full Name:carboxypeptidase, vitellogenic-like
Alias:HVLP|MGC10029
Organism:Homo sapiens (Human)
Chromosome:7
Genetic Location:7p15-p14
Physical Location:29001771-29152677 on NC_000007.12, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene SNP Information
SNPAbuser/Control RatioCluster
rs10486606      dbSNP1.1929
Association Dataset
Name:16894614
Method:Association
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_019029.2NP_061902.2NC_000007.12 range: 29001771..29152677, complement
NM_031311.3NP_112601.3NC_000007.12 range: 29001771..29152677, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0004185serine carboxypeptidase activityMolecular FunctionIEA
GO:0008233peptidase activityMolecular FunctionIEA
GO:0006508proteolysisBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:54504
HGNC:14399
Ensembl:ENSG00000106066
MIM:609780
HPRD:07479
HuGE Navigator:54504
dbSNP:CPVL
GeneCard:CPVL
AceView:CPVL