Task 5: Researching SNPs
From Bioinformatikpedia
In this task we are to research SNPs associated with our protein obda_human, in different databases.
Contents
HGMD
HGMD - Human Gene Mutation Database HGMD represents a collection of published mutations. In our case publications between 1993-2008 are covered. The sequences and a list of all listed mutations can be found in the protocol-msud-task5 protocol
| HGMD - BCKDHA (non-profit) | |
| Mutation type | number of entries |
| Missense/nonsense | 36 |
| small deletions | 3 |
| small insertions | 1 |
| Gross deletions | 2 |
| complex rearrangements | 1 |
