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Single Nackonide Polymorphism (SNP) - Coggle Diagram
Single Nackonide Polymorphism (SNP)
Human Genome Project
Mapped human genome at base pair level
Identified SNP locations
Started in 1990 by USA
Applications in Medicine
Drug response prediction
Gene function identification
Diagnostic and risk profiling
Investigation of migration patterns
Gene discovery and allele mapping
Significance and Impact
Variation in disease risk
Differences in phenoypes
Variations in drug treatment response
Changes in protein quality and quantity
SNP profiles for population grouping
Definition and Characteristics
Most frequent form of genetic variation
Occurs every 100-1,000 base pairs
Variation of single nucleotide in genome
Basis of genetic diversity
Analysis Tools
NCBI database (dbSNP)
RefSNP ID (rs number)
Bioinformatics tools
Evaluation
Advantages
High mutation rates
Effective for disease mutation study
Abundant markers
Disadvantages
Individual markers less informative
Requires genotyping many SNPs
Types of SNPs
Nucleotide Changes
Transitions (Purine-Purine or Pyrimidine-Pyrimidine
Trans versions (Purine-Pyrimidine
Location Based
cSNP (Coding SNP)
KkvgSNP (Genomic SNP)
iSNP (Intron SNP)
sSNP (Synonymous SNP in coding region)
rSNP (Regulatory SNP in promoter
Substitution Effects
Synonymous (Silent substitution)
Nonsynonymous
Nonsense (Premature stop codon
Missense (Amino acid replacement
Functional Classification
Linked SNPs (Outside gene, indicative)
Causative SNPs ( Inside gene, affects protein