Synonymous SNPs do not affect the protein sequence, while nonsynonymous SNPs change the amino acid sequence of protein. endobj
Summary Page.cystic fibrosis transmembrane conductance regulator,National Center for Biotechnology Information,"single-nucleotide polymorphism / SNP | Learn Science at Scitable","beta 0 thalassemia, a nonsense mutation in man","Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus","APOE and neuroenergetics: an emerging paradigm in Alzheimer's disease","Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies","Single nucleotide polymorphisms: a new paradigm for molecular marker technology and DNA polymorphism detection with emphasis on their use in plants","A global reference for human genetic variation","Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease","SNPs — A Shortcut to Personalized Medicine","Application of a high-resolution genetic map for chromosome-scale genome assembly and fine QTLs mapping of seed size and weight traits in castor bean","Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers","Forensic SNP Genotyping using Nanopore MinION Sequencing","Clinical relevance of genetic polymorphisms in the human CYP2C subfamily","Pharmacogenetics and Psychiatric Care: A Review and Commentary","Single-nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service","Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example","IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance","A "silent" polymorphism in the MDR1 gene changes substrate specificity","A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome","CFTR mutation analysis and haplotype associations in CF patients","Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene","Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin","Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility","[DBSNP-announce] DBSNP Human Build 142 (GRCh38 and GRCh37.p13)","Kaviar: an accessible system for testing SNV novelty","dbSAP: single amino-acid polymorphism database for protein variation detection","A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms","Clustered RefSNPs (rs) and Other Data Computed in House","Recommendations for the description of sequence variants",10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N,"Standard mutation nomenclature in molecular diagnostics: practical and educational challenges","Improved measures for evolutionary conservation that exploit taxonomy distances","LIST-S2: Taxonomy Based Sorting of Deleterious Missense Mutations Across Species","View of SNPViz - Visualization of SNPs in proteins","PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants","Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated? Identificação de marcadores SNP (Single Nucleotide Polymorphism) associados ao gene de resistência Rpp4 da soja (Glycine max L. 3 0 obj
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