Tandem Repeat Variation

Preferred Label : Tandem Repeat Variation;

NCIt synonyms : Variable Number Tandem Repeat; VNTR;

NCIt definition : An inherited polymorphism in eukaryotic DNA that results from variations in the number of tandem repeat nucleotide sequences, which are end-to-end adjacent copies of a short (2 to 60 nucleotides) DNA sequence located between two restriction endonuclease recognition sites. These are referred to as variable number of tandem repeats (VNTR), and the number of alleles at these loci can vary from 2 to more than 20. VNTRs provide important genetic information that is used to identify an individual via the DNA fingerprinting technique.;

Details

Origin ID

C45680;

UMLS CUI

C1710347;

Automatic exact mappings (from CISMeF team)
- VNTR [EDAM topic]
- minisatellite repeats [MeSH Descriptor]
Currated CISMeF NLP mapping
- variable number of tandem repeats [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
abnormality_associated_with_allele
- CYP2E1*1 Allele [NCIt concept]
- TPMT*V2 Allele [NCIt concept]
- TPMT*V3 Allele [NCIt concept]
- TPMT*V4 Allele [NCIt concept]
- TPMT*V5 Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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