| Created: | 9/9/2008 4:05:40 PM |
| Modified: | 7/3/2019 8:13:28 PM |
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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/>
- Associations To
- Associations From
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| Element | Source Role | Target Role |
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«DEPRECATED» 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/>
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PerformedGeneticObservationResult Class |
Name: referencingPerformedGeneticObservationResult |
Name: referencedSingleNucleotidePolymorphism |
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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/>
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| Tag | Value |
| Map:LSDAMv2.2.3Plus | SingleNucleotidePolymorphism |
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Details:
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| 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): |