: Public Class
DEFINITION:<br/>The difference(s) in the nucleotide sequence of a biologic entity relative to a reference sequence. <br/><br/>EXAMPLE(S):<br/>A single nucleotide change from adenosine to cytosine, of the CAG trinucleotides repeats in the Huntington gene. <br/>The BRCA1 gene can contain an insertion at position 5382, BRCA1 gene.c.5382insC, or a single nucleotide polymorphism, at position 61 converting a to a G, 61C-#gt;G.<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
- Attributes
- Tagged Values
- Other Links
| Attribute |
Public ID
identifier
|
 Details:
| Alias: |
|
| Initial: |
|
| Stereotype: |
|
| Ordered: |
|
| Range: |
Range:1. to 1 |
| Transient: |
False |
| Derived: |
False |
| IsID: |
False |
Map:LSDAMv2.2.3Plus=SingleNucleotidePolymorphismIdentifier.identifier
Map:PGx v1.0=PF.PFSRNUM
|
Notes:
|
DEFINITION:<br/>A unique symbol that establishes the identity of the genetic variation. <br/><br/>EXAMPLE(S):<br/>An rs identifier in dbSNP, a mutation identifier in COSMIC, or a variant identifier in OMIM<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
|
|
| Tag |
Value |
| Map:LSDAMv2.2.3Plus |
GeneticVariation |
 Details:
|
| Object |
Type |
Connection |
Direction |
Notes |
| NucleicAcidSequenceFeature |
Class |
Generalization |
To |
DESCRIPTION:
Each GeneticVariation always specializes one NucleicAcidSequenceFeature. Each NucleicAcidSequenceFeature might be specialized by one GeneticVariation.
DEFINITION:
EXAMPLE(S):
OTHER NAME(S):
NOTE(S): |
| SingleNucleotidePolymorphism |
Class |
Generalization |
From |
DESCRIPTION:
Each SingleNucleotidePolymorphism always specializes one GeneticVariation. Each GeneticVariation might be specialized by one SingleNucleotidePolymorphism.
DEFINITION:
EXAMPLE(S):
OTHER NAME(S):
NOTE(S): |