MSH2 NP_000242.1:p.A636P

Preferred Label : MSH2 NP_000242.1:p.A636P;

NCIt synonyms : MutS Homolog 2 A636P; MutS Protein Homolog 2 A636P; DNA Mismatch Repair Protein Msh2 A636P; NP_000242.1:p.Ala636Pro; MSH2 Ala636Pro; MSH2 p.Ala636Pro; MutS Homolog 2 Ala636Pro; NP_000242.1:p.A636P; DNA Mismatch Repair Protein Msh2 Ala636Pro; MutS Protein Homolog 2 Ala636Pro; MSH2 NP_000242.1:p.Ala636Pro; MSH2 A636P; MSH2 p.A636P;

NCIt definition : A change in the amino acid residue at position 636 in DNA mismatch repair protein Msh2 where alanine has been replaced by proline.;

Details

Origin ID

C131463;

UMLS CUI

C4330606;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- MSH2 Gene Mutation [NCIt concept]
- MSH2 NM_000251.2:c.1906G>C [NCIt concept]
gene_product_variant_of_gene_product
- DNA Mismatch Repair Protein Msh2 [NCIt concept]
molecular_abnormality_involves_gene
- MSH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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