Difference between revisions of "Task 5: Researching SNPs"
From Bioinformatikpedia
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= HGMD = |
= HGMD = |
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HGMD - Human Gene Mutation Database |
HGMD - Human Gene Mutation Database |
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| + | HGMD represents a collection of published mutations. In our case publications between 1993-2008 are covered. |
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| − | The sequences can be found in the [[protocol-msud-task5 protocol]] |
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| + | The sequences and a list of all listed mutations can be found in the [[protocol-msud-task5 protocol]] |
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<table border=1> |
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<tr><td colspan=2 align=center><b>HGMD - BCKDHA (non-profit)</b></td></tr> |
<tr><td colspan=2 align=center><b>HGMD - BCKDHA (non-profit)</b></td></tr> |
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Revision as of 13:41, 5 June 2012
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 |
