| Reports |
| substitution |
| cSNPs | 0 |
| Insertion | 14 |
| Deletion | 13 |
| SNPs |
-1kb
5'UTR
CDS
3'UTR
INTRON
5083320(c.-8+42C>T),
5083378(c.-8+100G>A),
5083525(c.-8+247C>T),
5084201(c.-8+923C>T),
5084204(c.-8+926A>C),
5084222(c.-8+944G>C),
5084245(c.-8+967A>G),
5084287(c.-8+1009G>A),
5084317(c.-8+1039C>T),
5084370(c.-8+1092T>A),
5084438(c.-8+1160T>A),
5084658(c.-8+1380G>A),
5084672(c.-8+1394T>C),
5085023(c.-8+1745C>T),
5085028(c.-8+1750C>T),
5085035(c.-8+1757A>G),
5085509(c.-8+2231T>G),
5085889(c.-8+2611A>G),
5086006(c.-8+2728C>T),
5086272(c.-7-2737T>C),
5086500(c.-7-2509T>C),
5086503(c.-7-2506G>C),
5086561(c.-7-2448G>A),
5086700(c.-7-2309T>C),
5086753(c.-7-2256A>G),
5086755(c.-7-2254A>G),
5087466(c.-7-1543A>G),
5088306(c.-7-703T>C),
5088365(c.-7-644A>G),
5088368(c.-7-641C>T),
5088435(c.-7-574C>T),
5088463(c.-7-546T>G),
5088609(c.-7-400C>T),
5088615(c.-7-394G>C),
5088967(c.-7-42T>C),
5089172(c.96+61A>G),
5089275(c.96+164T>C),
5089510(c.96+399A>G),
5089544(c.96+433C>T),
5089679(c.96+568C>T),
5089686(c.96+575A>T),
5089709(c.96+598C>T),
5089877(c.96+766T>A),
5089970(c.96+859A>C),
5090026(c.96+915G>C),
5090164(c.96+1053A>G),
5090245(c.96+1134A>T),
5090248(c.96+1137C>T),
5090306(c.96+1195G>T),
5090453(c.96+1342T>C),
5090478(c.96+1367A>G),
5090528(c.96+1417A>T),
5090766(c.96+1655C>G),
5090770(c.96+1659G>C),
5090840(c.96+1729A>G),
5090896(c.96+1785C>A),
5090980(c.96+1869A>C),
5090993(c.96+1882A>G),
5091038(c.96+1927T>C),
5091105(c.96+1994A>C),
5091136(c.96+2025C>T),
5091170(c.96+2059A>T),
5091270(c.97-2093G>T),
5091321(c.97-2042A>G),
5091498(c.97-1865T>G),
5091588(c.97-1775C>G),
5091602(c.97-1761G>A),
5091670(c.97-1693T>C),
5091978(c.97-1385G>A),
5092351(c.97-1012T>C),
5092387(c.97-976C>T),
5092434(c.97-929C>T),
5092712(c.97-651G>C),
5092880(c.97-483C>T),
5092884(c.97-479C>T),
5093067(c.97-296A>C),
5093320(c.97-43G>T),
5093348(c.97-15C>T),
5093356(c.97-7C>T),
5093521(c.186+69A>G),
5093545(c.186+93A>C),
5093769(c.186+317T>C),
5093942(c.186+490C>A),
5093998(c.186+546A>T),
5094541(c.187-1074A>C),
5094545(c.187-1070C>T),
5094614(c.187-1001G>A),
5094897(c.187-718G>A),
5094960(c.187-655T>C),
5095041(c.187-574A>T),
5095171(c.187-444T>C),
5095179(c.187-436G>A),
5095186(c.187-429T>A),
5095253(c.187-362G>T),
5095263(c.187-352A>T),
5095341(c.187-274T>C),
5095468(c.187-147A>G),
5095489(c.187-126C>T),
+1kb
5095879(c.*220C>A),
5095976(c.*317C>T),
5095977(c.*318A>G),
5096069(c.*410C>A),
5096296(c.*637A>T),
5096541(c.*882C>T),
5096671(c.*1012G>A),
5096691(c.*1032T>A),
5096851(c.*1192T>C),
5096908(c.*1249T>A),
5096926(c.*1267G>A),
5097082(c.*1423G>A),
5097189(c.*1530T>C),
5097762(c.*2103A>G),
5098271(c.*2612A>G),
5098272(c.*2613C>T),
5098423(c.*2764C>T),
5098495(c.*2836A>G),
5098751(c.*3092C>T),
5098940(c.*3281C>A),
5099455(c.*3796A>C),
5099509(c.*3850C>T),
5099629(c.*3970G>C),
5099646(c.*3987G>A),
5099730(c.*4071C>A),
5099738(c.*4079C>A),
5099902(c.*4243T>A),
5099982(c.*4323G>A),
5100552(c.*4893A>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
5086780 (c.-7-2221_-7-2220dupAA),
5088140 (c.-7-861dupA),
5089644 (c.96+533dupA),
5090042 (c.96+931_96+932insCAGAGT),
5090202 (c.96+1097dupT),
5090523 (c.96+1412_96+1413insC),
5091332 (c.97-2030dupA),
5092946 (c.97-413dupT),
5093549 (c.186+101dupA),
5094092 (c.186+640_186+641insTTTTGT),
5094516 (c.186+1072_186+1074dupTTC),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
5083742 (c.-8+479_-8+481delTTT),
5087773 (c.-7-1234delC),
5089767 (c.96+657_96+658delTG),
5090101 (c.96+991delT),
5090345 (c.96+1243delT),
5090923 (c.96+1814_96+1815delGT),
5091042 (c.96+1939delT),
5091631 (c.97-1725_97-1721delACCTG),
5092870 (c.97-492delT),
5093203 (c.97-159_97-158delTA),
5094135 (c.186+684_186+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
(ENSMUST00000192029)
|
MISAEDCEFIQRFEMKRSSEDKQEMLQTEGSQCAKTFINLMTHISKEQTVQYILTMVDDM
LQENHQRVSIFFDYAKR
|
|
MSMv4 transcript
|
MISAEDCEFIQRFEMKRSSEDKQEMLQTEGSQCAKTFINLMTHISKEQTVQYILTMVDDM
LQENHQRVSIFFDYAKR
|
| homology | 100.00 (77 / 77) |
|