The genotype is the genetic makeup of a cell, an organism, or an individual usually with reference to a specific characteristic under consideration.[1] For instance, the human CFTR gene, which encodes a protein that transports chloride ions across cell membranes, can be dominant (A) as the normal version of the gene, or recessive (a) as a mutated version of the gene. Individuals receiving two recessive alleles will be diagnosed with Cystic fibrosis. It is generally accepted that inherited genotype, transmitted epigenetic factors, and non-hereditary environmental variation contribute to the phenotype of an individual.
Non-hereditary DNA mutations are not classically understood as representing the individual's genotype. Hence, scientists and physicians sometimes talk for example about the (geno)type of a particular cancer, that is the genotype of the disease as distinct from the diseased.