| Created: | 9/9/2008 4:05:40 PM |
| Modified: | 3/25/2015 4:18:27 PM |
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DEFINITION:<br /></p><p>A variation defined by the substitution of one base, present at an appreciable frequency between individuals of a single interbreeding population. <br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p>The A to G change in the TPMT gene, identified by dbSNP rs1142345<br /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p><br /></p><p>NOTE(S):<br /></p>
- Associations To
- Associations From
- Tagged Values
- Other Links
| Element | Source Role | Target Role |
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DNASequence Class |
Name: includedSingleNucleotidePolymorphism |
Name: includingDNASequence |
 Details:
DESCRIPTION:<br /></p><p>Each SingleNucleotidePolymorphism always is included in one DNASequence. Each DNASequence always includes one or more SingleNucleotidePolymorphism.<br /></p><p><br /></p><p>DEFINITION:<br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p><br /></p><p>NOTE(S):<br /></p>
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| Element | Source Role | Target Role |
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SingleNucleotidePolymorphismIdentifier Class |
Name: identifyingSingleNucleotidePolymorphismIdentifier |
Name: identifiedSingleNucleotidePolymorphism |
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Details:
DESCRIPTION:<br /></p><p>Each SingleNucleotidePolymorphismIdentifier always identifies one SingleNucleotidePolymorphism. Each SingleNucleotidePolymorphism might be identified by one or more SingleNucleotidePolymorphismIdentifier.<br /></p><p><br /></p><p>DEFINITION:<br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p><br /></p><p>NOTE(S):<br /></p>
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PerformedGeneticObservationResult Class |
Name: referencingPerformedGeneticObservationResult |
Name: referencedSingleNucleotidePolymorphism |
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Details:
DESCRIPTION:<br /></p><p>Each PerformedGeneticObservationResult might reference one SingleNucleotidePolymorphism. Each SingleNucleotidePolymorphism might be referenced by one or more PerformedGeneticObservationResult.<br /></p><p><br /></p><p>DEFINITION:<br /></p><p>The link between the observed variation in test result and the documented variation in the dbSNP database as identified by an rs number.<br /></p><p><br /></p><p>EXAMPLE(S):<br /></p><p>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 /></p><p><br /></p><p>OTHER NAME(S):<br /></p><p><br /></p><p>NOTE(S):<br /></p>
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| Tag | Value |
| Map:LSDAM | SingleNucleotidePolymorphism |
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Details:
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| 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): |