| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 9 |
| Deletion | 13 |
| SNPs |
+1kb
54599192(c.-31C>A),
54599266(c.-105G>C),
54599335(c.-174T>A),
54599336(c.-175A>G),
54599411(c.-250A>G),
54599528(c.-367T>C),
54599589(c.-428T>C),
54599714(c.-553A>G),
54599803(c.-642G>A),
54599978(c.-817A>G),
54600000(c.-839A>T),
54600433(c.-1272C>T),
54600696(c.-1535G>A),
54600751(c.-1590T>C),
54600903(c.-1742A>G),
54601024(c.-1863C>T),
54601035(c.-1874C>A),
54601637(c.-2476G>A),
54601818(c.-2657C>A),
54601870(c.-2709A>G),
54602433(c.-3272T>C),
54602511(c.-3350T>C),
54602846(c.-3685C>T),
54602879(c.-3718C>T),
54602895(c.-3734C>T),
54603019(c.-3858C>G),
54603033(c.-3872G>A),
54603034(c.-3873T>C),
54603063(c.-3902C>T),
54603181(c.-4020C>A),
54603190(c.-4029G>A),
54603608(c.-4447A>G),
54603771(c.-4610T>C),
54604030(c.-4869G>A),
5'UTR
CDS
3'UTR
INTRON
54594228(c.231-337G>A),
54594273(c.231-382A>G),
54594385(c.231-494T>G),
54594573(c.231-682C>T),
54594700(c.231-809C>A),
54595057(c.231-1166A>G),
54595064(c.231-1173A>G),
54595082(c.231-1191C>T),
54595127(c.231-1236A>G),
54595128(c.231-1237T>C),
54595152(c.231-1261A>T),
54595278(c.231-1387T>G),
54595343(c.231-1452C>T),
54595367(c.231-1476T>A),
54595459(c.231-1568T>G),
54595529(c.231-1638A>G),
54595618(c.231-1727G>A),
54595669(c.231-1778A>G),
54595697(c.231-1806C>A),
54595725(c.231-1834G>A),
54595749(c.231-1858A>G),
54595899(c.231-2008G>T),
54596135(c.231-2244A>G),
54596370(c.230+2352C>T),
54596415(c.230+2307A>G),
54596468(c.230+2254T>C),
54596583(c.230+2139T>C),
54596734(c.230+1988G>T),
54596973(c.230+1749A>G),
54597355(c.230+1367C>T),
54597618(c.230+1104A>G),
54597801(c.230+921C>G),
54598131(c.230+591C>T),
54598171(c.230+551C>G),
54598174(c.230+548G>A),
54598191(c.230+531T>C),
54598313(c.230+409A>G),
54598355(c.230+367C>T),
54598362(c.230+360G>A),
54598421(c.230+301G>T),
54598444(c.230+278T>G),
54598465(c.230+257C>T),
54598497(c.230+225A>G),
54598540(c.230+182C>T),
54598565(c.230+157A>G),
54598623(c.230+99T>A),
54598710(c.230+12C>T),
54598889(c.119-56G>C),
54599036(c.118+8C>G),
-1kb
54588912(c.*4838G>A),
54589350(c.*4400G>T),
54589647(c.*4103A>G),
54589968(c.*3782G>A),
54590161(c.*3589A>G),
54590194(c.*3556G>A),
54590248(c.*3502T>C),
54590254(c.*3496C>A),
54590498(c.*3252C>T),
54590499(c.*3251G>A),
54590514(c.*3236C>T),
54590516(c.*3234C>G),
54590895(c.*2855T>C),
54591023(c.*2727T>C),
54591157(c.*2593T>C),
54591426(c.*2324A>G),
54591745(c.*2005G>T),
54591811(c.*1939A>T),
54591839(c.*1911G>A),
54591907(c.*1843G>T),
54591955(c.*1795C>T),
54592017(c.*1733A>G),
54592068(c.*1682C>T),
54592082(c.*1668A>T),
54592094(c.*1656A>G),
54592101(c.*1649T>C),
54592149(c.*1601T>A),
54592177(c.*1573G>A),
54592313(c.*1437C>G),
54592571(c.*1179T>C),
54592613(c.*1137T>G),
54592716(c.*1034T>C),
54592751(c.*999G>A),
54592827(c.*923C>T),
54592886(c.*864A>G),
54593093(c.*657T>A),
54593276(c.*474T>C),
54593299(c.*451A>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 |
54593864 (p.Pro86Pro),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000140142)
|
EANGPADGYAAIAQADRLTQEPESIRKWREEQKKRLQELDAASKVTEQEWREKAKKDLEE
WNQRQSEQVEKNKINNSKHHCPARCPSRERPRSTWALLGQRSSCFRQSGTSSGSCHTQPV
LFL*
|
|
MSMv4 transcript
|
EANGPADGYAAIAQADRLTQEPESIRKWREEQKKRLQELDAASKVTEQEWREKAKKDLEE
WNQRQSEQVEKNKINNSKHHCPARCPSRERPRSTWALLGQRSSCFRQSGTSSGSCHTQPV
LFL*
|
| homology | 100.00 (124 / 124) |
|