Task 7 (MSUD)
Contents
HGMD
dbSNP
Database facts
Q: What information is given?
A: Short variations in nucleotide sequence from many different organisms. It contains following information:
- mutations of different categories:
- single nucleotide variations
- indels
- short tandem repeats
- microsatellites
- additional information for rare variations
- disease relationship
- genotype information
- allele origin
- somatic or germline events
Q: How recent is the release?
A: Current version of dbSNP is build 137. dbSNP web query, ftp data and Entrez Indexing were released on Jun 26, 2012. New release of BLAST database is not yet done. The newest release of BLAST database was released on Nov 14, 2011 from build 135.
Q: Where does the information come from?
A: dbSNP is created by the cooperation of the National Human Genome Research Institute and the National Center for Biotechnology Information. It is integrated with the NCBI Genomic data.
Mutations of BCKDHA
SNPdbe
Database facts
Q: What information is given?
A: Experimentally annotated effects of non-synonymous SNPs (nsSNP). Computationally annotated structural and functional effects of nsSNP. Association between nsSNP and diseases.
Q: How recent is the release?
A: The most recent update took place on Mar 05, 2013.
Q: Where does the information come from?
A: Experimentally annotated nsSNP from dbSNP; Variants from UniProt and PMD; Genomic data from 1000 Genome collection.
Mutations of BCKDHA
OMIM
SNPedia
Database facts
Q: What information is given?
A:
Q: How recent is the release?
A:
Q: Where does the information come from?
A:
