| Reports |
| substitution |
| cSNPs | 0 |
| Insertion | 14 |
| Deletion | 13 |
| SNPs |
-1kb
5'UTR
CDS
3'UTR
INTRON
5084201(c.-34-216C>T),
5084204(c.-34-213A>C),
5084222(c.-34-195G>C),
5084245(c.-34-172A>G),
5084287(c.-34-130G>A),
5084317(c.-34-100C>T),
5084370(c.-34-47T>A),
5084658(c.113+95G>A),
5084672(c.113+109T>C),
5085023(c.113+460C>T),
5085028(c.113+465C>T),
5085035(c.113+472A>G),
5085509(c.113+946T>G),
5085889(c.113+1326A>G),
5086006(c.113+1443C>T),
5086272(c.113+1709T>C),
5086500(c.113+1937T>C),
5086503(c.113+1940G>C),
5086561(c.113+1998G>A),
5086700(c.113+2137T>C),
5086753(c.113+2190A>G),
5086755(c.113+2192A>G),
5087466(c.114-1543A>G),
5088306(c.114-703T>C),
5088365(c.114-644A>G),
5088368(c.114-641C>T),
5088435(c.114-574C>T),
5088463(c.114-546T>G),
5088609(c.114-400C>T),
5088615(c.114-394G>C),
5088967(c.114-42T>C),
5089172(c.216+61A>G),
5089275(c.216+164T>C),
5089510(c.216+399A>G),
5089544(c.216+433C>T),
5089679(c.216+568C>T),
5089686(c.216+575A>T),
5089709(c.216+598C>T),
5089877(c.216+766T>A),
5089970(c.216+859A>C),
5090026(c.216+915G>C),
5090164(c.216+1053A>G),
5090245(c.216+1134A>T),
5090248(c.216+1137C>T),
5090306(c.216+1195G>T),
5090453(c.216+1342T>C),
5090478(c.216+1367A>G),
5090528(c.216+1417A>T),
5090766(c.216+1655C>G),
5090770(c.216+1659G>C),
5090840(c.216+1729A>G),
5090896(c.216+1785C>A),
5090980(c.216+1869A>C),
5090993(c.216+1882A>G),
5091038(c.216+1927T>C),
5091105(c.216+1994A>C),
5091136(c.216+2025C>T),
5091170(c.216+2059A>T),
5091270(c.217-2093G>T),
5091321(c.217-2042A>G),
5091498(c.217-1865T>G),
5091588(c.217-1775C>G),
5091602(c.217-1761G>A),
5091670(c.217-1693T>C),
5091978(c.217-1385G>A),
5092351(c.217-1012T>C),
5092387(c.217-976C>T),
5092434(c.217-929C>T),
5092712(c.217-651G>C),
5092880(c.217-483C>T),
5092884(c.217-479C>T),
5093067(c.217-296A>C),
5093320(c.217-43G>T),
5093348(c.217-15C>T),
5093356(c.217-7C>T),
5093521(c.306+69A>G),
5093545(c.306+93A>C),
5093769(c.306+317T>C),
5093942(c.306+490C>A),
5093998(c.306+546A>T),
5094541(c.307-1074A>C),
5094545(c.307-1070C>T),
5094614(c.307-1001G>A),
5094897(c.307-718G>A),
5094960(c.307-655T>C),
5095041(c.307-574A>T),
5095171(c.307-444T>C),
5095179(c.307-436G>A),
5095186(c.307-429T>A),
5095253(c.307-362G>T),
5095263(c.307-352A>T),
5095341(c.307-274T>C),
5095468(c.307-147A>G),
5095489(c.307-126C>T),
+1kb
5095879(c.*151C>A),
5095976(c.*248C>T),
5095977(c.*249A>G),
5096069(c.*341C>A),
5096296(c.*568A>T),
5096541(c.*813C>T),
5096671(c.*943G>A),
5096691(c.*963T>A),
5096851(c.*1123T>C),
5096908(c.*1180T>A),
5096926(c.*1198G>A),
5097082(c.*1354G>A),
5097189(c.*1461T>C),
5097762(c.*2034A>G),
5098271(c.*2543A>G),
5098272(c.*2544C>T),
5098423(c.*2695C>T),
5098495(c.*2767A>G),
5098751(c.*3023C>T),
5098940(c.*3212C>A),
5099455(c.*3727A>C),
5099509(c.*3781C>T),
5099629(c.*3901G>C),
5099646(c.*3918G>A),
5099730(c.*4002C>A),
5099738(c.*4010C>A),
5099902(c.*4174T>A),
5099982(c.*4254G>A),
5100552(c.*4824A>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
5086780 (c.114-2221_114-2220dupAA),
5088140 (c.114-861dupA),
5089644 (c.216+533dupA),
5090042 (c.216+931_216+932insCAGAGT),
5090202 (c.216+1097dupT),
5090523 (c.216+1412_216+1413insC),
5091332 (c.217-2030dupA),
5092946 (c.217-413dupT),
5093549 (c.306+101dupA),
5094092 (c.306+640_306+641insTTTTGT),
5094516 (c.306+1072_306+1074dupTTC),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
5083742 (c.-35+132_-35+134delTTT),
5087773 (c.114-1234delC),
5089767 (c.216+657_216+658delTG),
5090101 (c.216+991delT),
5090345 (c.216+1243delT),
5090923 (c.216+1814_216+1815delGT),
5091042 (c.216+1939delT),
5091631 (c.217-1725_217-1721delACCTG),
5092870 (c.217-492delT),
5093203 (c.217-159_217-158delTA),
5094135 (c.306+684_306+686delTTG),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 0 |
| non-synonymous num | 0 |
| synonymous substitutions |
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000194676)
|
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSSE
DKQEMLQTEGSQCAKTFINLMTHISKEQTVQYILTMVDDMLQENHQRVSIFFDYAKRSKS
TAWPYFLPMLNRQDPFTVHM
|
|
MSMv4 transcript
|
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSSE
DKQEMLQTEGSQCAKTFINLMTHISKEQTVQYILTMVDDMLQENHQRVSIFFDYAKRSKS
TAWPYFLPMLNRQDPFTVHM
|
| homology | 100.00 (140 / 140) |
|