: Public Class
Created: 9/9/2008 4:05:40 PM
Modified: 7/3/2019 8:13:28 PM
Project:
Advanced:
DEFINITION:<br/>A variation defined by the substitution of one base, present at an appreciable frequency between individuals of a single interbreeding population.  <br/><br/>EXAMPLE(S):<br/>The A to G change in the TPMT gene, identified by dbSNP rs1142345<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Element Source Role Target Role
┬źDEPRECATED┬╗ DNASequence
Class  
Name: includedSingleNucleotidePolymorphism
 
Name: includingDNASequence
 
Details:
DESCRIPTION:<br/>Each SingleNucleotidePolymorphism always is included in one DNASequence.  Each DNASequence always includes one or more SingleNucleotidePolymorphism.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Element Source Role Target Role
PerformedGeneticObservationResult
Class  
Name: referencingPerformedGeneticObservationResult
 
Name: referencedSingleNucleotidePolymorphism
 
Details:
DESCRIPTION:<br/>Each PerformedGeneticObservationResult might reference one SingleNucleotidePolymorphism.  Each SingleNucleotidePolymorphism might be referenced by one or more PerformedGeneticObservationResult.<br/><br/>DEFINITION:<br/>The link between the observed variation in test result and the documented variation in the dbSNP database as identified by an rs number.<br/><br/>EXAMPLE(S):<br/>A given subject, Joe, may have a genetic variation detected by a test result which is a match to a dbSNP variation identified with the rs number "rs1570360".  The dbSNP variation ("NM_001025367.2:c.-614A#gt;G") tells us that NM_001025367.2 is the most current reference sequence (".2" means it's version 2).  The "c.-614A#gt;G" tells us a nucleotide changed in position "-614" from A to G. <br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Tag Value
Map:LSDAMv2.2.3Plus SingleNucleotidePolymorphism
Details:
 
Object Type Connection Direction Notes
GeneticVariation Class Generalization To DESCRIPTION: Each SingleNucleotidePolymorphism always specializes one GeneticVariation. Each GeneticVariation might be specialized by one SingleNucleotidePolymorphism. DEFINITION: EXAMPLE(S): OTHER NAME(S): NOTE(S):