Difference between revisions of "Fabry:Mapping point mutations/SNPedia data"
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<figtable id="tab:SNPedia"> |
<figtable id="tab:SNPedia"> |
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| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| YES |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| YES |
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| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| [http://www.ncbi.nlm.nih.gov/snp/?term=rs104894827 rs104894827] |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| [http://www.ncbi.nlm.nih.gov/snp/?term=rs104894827 rs104894827] |
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| − | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 361RR |
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| − | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| missense |
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| − | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| YES |
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| − | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| [http://www.ncbi.nlm.nih.gov/snp/?term=rs28935494 rs28935494] |
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| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Y365X |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Y365X |
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Revision as of 11:44, 10 June 2012
<figtable id="tab:SNPedia"> SNPs found in SNPedia
| SNP | function_class | validation | dbSNP_entry |
|---|---|---|---|
| A20P | missense | YES | rs104894847 |
| N34S | missense | YES | rs104894835 |
| P40S | missense | YES | rs104894831 |
| W44X | stop-gained | YES | rs104894829 |
| C56G | missense | YES | rs104894836 |
| S65T | missense | YES | rs104894848 |
| E66Q | missense | NO | rs104894833 |
| R112C | missense | NO | rs104894834 |
| 143TP | missense | YES | rs104894845 |
| 143TP | missense | YES | rs104894845 |
| P146S | missense | YES | rs104894837 |
| A156T | missense | YES | rs28935195 |
| W162R | missense | YES | rs28935196 |
| C202W | missense | YES | rs104894838 |
| N215S | missense | YES | rs28935197 |
| Y222X | stop-gained | YES | rs104894851 |
| R227Q | missense | YES | rs104894840 |
| R227X | stop-gained | YES | rs104894841 |
| D264V | missense | YES | rs28935486 |
| D266V | missense | YES | rs28935487 |
| V269A | missense | YES | rs28935488 |
| N272S | missense | YES | rs28935495 |
| Q279E | missense | YES | rs28935485 |
| W287X | stop-gained | YES | rs104894839 |
| M296V | missense | YES | rs104894830 |
| M296I | missense | YES | rs104894846 |
| S297F | missense | YES | rs28935489 |
| R301Q | missense | YES | rs104894828 |
| D313Y | missense | YES | rs28935490 |
| Q327K | missense | YES | rs28935491 |
| G328A | missense | YES | rs28935492 |
| G328R | missense | YES | rs104894832 |
| W340X | stop-gained | YES | rs104894842 |
| R342Q | missense | YES | rs28935493 |
| R342X | stop-gained | YES | rs104894843 |
| R356W | missense | YES | rs104894827 |
| Y365X | stop-gained | YES | rs104894849 |
| E398X | stop-gained | YES | rs104894844 |
| T410A | missense | YES | rs104894852 |
</figtable>
