Task 7: Research SNPs
From Bioinformatikpedia
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HGMD
dbSNP
Results
synonymous SNPS in coding region of isoform 1 human and transcript variant 1
| cluster ID | MAF | SNP allel | residue | codon position | aa position |
|---|---|---|---|---|---|
| rs114758821 | 9E-4 | G -> A | Pro | 3 | 7 |
| rs147297176 | 5E-4 | C -> T | Phe | 3 | 58 |
| rs147426902 | 3.2E-3 | T -> C | His | 3 | 63 |
| rs62625342 | 5E-4 | C -> T | Ser | 3 | 76 |
| rs148480830 | - | C -> G | Ala | 3 | 162 |
| rs182920795 | 5E-4 | T -> A | Pro | 3 | 253 |
| rs201310322 | - | C -> T | Pro | 3 | 292 |
| rs114038675 | 5E-4 | G -> A | Glu | 3 | 298 |
| rs148632352 | - | T -> C | Val | 3 | 315 |
| rs35201683 | 6.4E-3 | C -> T | Tyr | 3 | 342 |
SNPdbe
Comparison of databases
| database | last update | version | what information | where from | # entries homo sapiens | # s SNPs | # ns SNPs | # disease causing SNPs | # SNPs in UTR | total |
|---|---|---|---|---|---|---|---|---|---|---|
| HGMD | ||||||||||
| dbSNP | 26.06.2012 | Build 137 | 192,678,553 | 10 | 41 | 10 | 162 | 213 | ||
| SNPdbe |
Mutation map
- What information is given?
- How recent?
- Where does the information come from?
