| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 17 |
| Deletion | 19 |
| SNPs |
+1kb
54611686(c.-422C>A),
54611831(c.-567C>T),
54612289(c.-1025T>A),
54612356(c.-1092T>C),
54612582(c.-1318T>C),
54612937(c.-1673T>G),
54613683(c.-2419C>T),
54613843(c.-2579A>G),
54613882(c.-2618C>A),
54614155(c.-2891T>C),
54614210(c.-2946G>A),
54614493(c.-3229T>C),
54614538(c.-3274A>G),
54615465(c.-4201T>C),
54615488(c.-4224C>T),
54615524(c.-4260C>T),
54615559(c.-4295A>C),
54615693(c.-4429T>C),
54615907(c.-4643A>G),
5'UTR
CDS
3'UTR
54592571(c.*1300T>C),
54592613(c.*1258T>G),
54592716(c.*1155T>C),
54592751(c.*1120G>A),
54592827(c.*1044C>T),
54592886(c.*985A>G),
54593093(c.*778T>A),
54593276(c.*595T>C),
54593299(c.*572A>G),
54593864(c.*7G>A),
INTRON
54594228(c.465-186G>A),
54594273(c.465-231A>G),
54594385(c.465-343T>G),
54594573(c.465-531C>T),
54594700(c.465-658C>A),
54595057(c.465-1015A>G),
54595064(c.465-1022A>G),
54595082(c.465-1040C>T),
54595127(c.465-1085A>G),
54595128(c.465-1086T>C),
54595152(c.465-1110A>T),
54595278(c.465-1236T>G),
54595343(c.465-1301C>T),
54595367(c.465-1325T>A),
54595459(c.465-1417T>G),
54595529(c.465-1487A>G),
54595618(c.465-1576G>A),
54595669(c.465-1627A>G),
54595697(c.465-1655C>A),
54595725(c.465-1683G>A),
54595749(c.465-1707A>G),
54595899(c.465-1857G>T),
54596135(c.465-2093A>G),
54596370(c.465-2328C>T),
54596415(c.464+2307A>G),
54596468(c.464+2254T>C),
54596583(c.464+2139T>C),
54596734(c.464+1988G>T),
54596973(c.464+1749A>G),
54597355(c.464+1367C>T),
54597618(c.464+1104A>G),
54597801(c.464+921C>G),
54598131(c.464+591C>T),
54598171(c.464+551C>G),
54598174(c.464+548G>A),
54598191(c.464+531T>C),
54598313(c.464+409A>G),
54598355(c.464+367C>T),
54598362(c.464+360G>A),
54598421(c.464+301G>T),
54598444(c.464+278T>G),
54598465(c.464+257C>T),
54598497(c.464+225A>G),
54598540(c.464+182C>T),
54598565(c.464+157A>G),
54598623(c.464+99T>A),
54598710(c.464+12C>T),
54598889(c.353-56G>C),
54599036(c.352+8C>G),
54599192(c.235-31C>A),
54599266(c.235-105G>C),
54599335(c.235-174T>A),
54599336(c.235-175A>G),
54599411(c.235-250A>G),
54599528(c.235-367T>C),
54599589(c.235-428T>C),
54599714(c.235-553A>G),
54599803(c.235-642G>A),
54599978(c.235-817A>G),
54600000(c.235-839A>T),
54600433(c.235-1272C>T),
54600696(c.235-1535G>A),
54600751(c.235-1590T>C),
54600903(c.235-1742A>G),
54601024(c.235-1863C>T),
54601035(c.235-1874C>A),
54601637(c.235-2476G>A),
54601818(c.235-2657C>A),
54601870(c.235-2709A>G),
54602433(c.235-3272T>C),
54602511(c.235-3350T>C),
54602846(c.235-3685C>T),
54602879(c.235-3718C>T),
54602895(c.235-3734C>T),
54603019(c.234+3625C>G),
54603033(c.234+3611G>A),
54603034(c.234+3610T>C),
54603063(c.234+3581C>T),
54603181(c.234+3463C>A),
54603190(c.234+3454G>A),
54603608(c.234+3036A>G),
54603771(c.234+2873T>C),
54604030(c.234+2614G>A),
54604226(c.234+2418A>G),
54604275(c.234+2369G>A),
54604288(c.234+2356A>G),
54604386(c.234+2258T>C),
54604510(c.234+2134C>T),
54604540(c.234+2104T>C),
54604614(c.234+2030T>C),
54604729(c.234+1915C>T),
54604781(c.234+1863G>A),
54604877(c.234+1767T>C),
54604887(c.234+1757C>T),
54605020(c.234+1624T>C),
54605097(c.234+1547G>A),
54605126(c.234+1518T>C),
54605465(c.234+1179G>T),
54605478(c.234+1166C>T),
54605551(c.234+1093G>A),
54605885(c.234+759G>T),
54605889(c.234+755G>A),
54605970(c.234+674A>C),
54605983(c.234+661T>C),
54606247(c.234+397A>G),
54606255(c.234+389A>G),
54606256(c.234+388C>T),
54606414(c.234+230C>T),
54606436(c.234+208G>A),
54606437(c.234+207G>A),
54606453(c.234+191G>T),
54606497(c.234+147T>C),
54606498(c.234+146C>T),
54606627(c.234+17T>C),
54606851(c.188-161G>A),
54607186(c.188-496C>T),
54607323(c.188-633G>A),
54607366(c.188-676C>T),
54607400(c.188-710A>G),
54607486(c.188-796C>T),
54607508(c.188-818A>T),
54607510(c.188-820G>A),
54607845(c.188-1155C>T),
54608125(c.188-1435A>G),
54608129(c.188-1439G>A),
54608194(c.188-1504T>G),
54608223(c.188-1533C>T),
54608299(c.188-1609A>G),
54608311(c.188-1621A>G),
54608524(c.188-1834C>T),
54608745(c.188-2055G>T),
54608746(c.188-2056A>C),
54609093(c.187+1985T>G),
54609216(c.187+1862G>T),
54609231(c.187+1847C>T),
54609366(c.187+1712C>G),
54609426(c.187+1652A>G),
54609897(c.187+1181A>G),
54610101(c.187+977C>T),
54610187(c.187+891A>T),
54610656(c.187+422G>A),
54610808(c.187+270T>C),
-1kb
54587469(c.*6402A>G),
54587520(c.*6351T>G),
54587539(c.*6332G>A),
54588018(c.*5853C>T),
54588070(c.*5801T>G),
54588079(c.*5792A>G),
54588165(c.*5706G>A),
54588246(c.*5625A>T),
54588537(c.*5334A>C),
54588912(c.*4959G>A),
54589350(c.*4521G>T),
54589647(c.*4224A>G),
54589968(c.*3903G>A),
54590161(c.*3710A>G),
54590194(c.*3677G>A),
54590248(c.*3623T>C),
54590254(c.*3617C>A),
54590498(c.*3373C>T),
54590499(c.*3372G>A),
54590514(c.*3357C>T),
54590516(c.*3355C>G),
54590895(c.*2976T>C),
54591023(c.*2848T>C),
54591157(c.*2714T>C),
54591426(c.*2445A>G),
54591745(c.*2126G>T),
54591811(c.*2060A>T),
54591839(c.*2032G>A),
54591907(c.*1964G>T),
54591955(c.*1916C>T),
54592017(c.*1854A>G),
54592068(c.*1803C>T),
54592082(c.*1789A>T),
54592094(c.*1777A>G),
54592101(c.*1770T>C),
54592149(c.*1722T>A),
54592177(c.*1694G>A),
54592313(c.*1558C>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
54611217 (p.Pro16Pro),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000091609)
|
MAEDFGFFSSSESGAPEAAEEDPAAAFLAQQESEIAGIENDPGFGAPAASQVASAQPGLA
SGAGSEDMSTTVNGDVFQEANGPADGYAAIAQADRLTQEPESIRKWREEQKKRLQELDAA
SKVTEQEWREKAKKDLEEWNQRQSEQVEKNKINNRASEEAFVKESKEETPGTEWEKVAQL
CDFNPKSSKQCKDVSRLRSVLMSLKQTPLSR*
|
|
MSMv4 transcript
|
MAEDFGFFSSSESGAPEAAEEDPAAAFLAQQESEIAGIENDPGFGAPAASQVASAQPGLA
SGAGSEDMSTTVNGDVFQEANGPADGYAAIAQADRLTQEPESIRKWREEQKKRLQELDAA
SKVTEQEWREKAKKDLEEWNQRQSEQVEKNKINNRASEEAFVKESKEETPGTEWEKVAQL
CDFNPKSSKQCKDVSRLRSVLMSLKQTPLSR*
|
| homology | 100.00 (212 / 212) |
|