Reports |
substitution |
cSNPs | 3 |
Insertion | 16 |
Deletion | 16 |
SNPs |
-1kb
46413321(c.-5710G>A),
46413466(c.-5565A>T),
46414156(c.-4875C>T),
46414763(c.-4268A>C),
46415054(c.-3977A>G),
46415102(c.-3929T>C),
46415171(c.-3860A>T),
46415201(c.-3830T>C),
46415305(c.-3726T>C),
46415688(c.-3343T>C),
46415900(c.-3131G>T),
46415916(c.-3115A>G),
46416009(c.-3022G>A),
46416292(c.-2739T>C),
46416418(c.-2613G>C),
46416748(c.-2283A>G),
46417012(c.-2019T>C),
46417031(c.-2000G>A),
46417086(c.-1945G>A),
46417324(c.-1707A>G),
46417328(c.-1703T>A),
46417334(c.-1697G>A),
46417434(c.-1597C>A),
46417883(c.-1148A>C),
46418083(c.-948A>G),
46418198(c.-833C>A),
5'UTR
CDS
3'UTR
INTRON
46419447(c.168+249A>G),
46419541(c.168+343A>G),
46419719(c.168+521T>A),
46419730(c.168+532C>T),
46419734(c.168+536T>C),
46420002(c.169-273A>G),
46420152(c.169-123G>A),
46420157(c.169-118T>C),
46420205(c.169-70G>A),
46420489(c.292+91T>C),
46420595(c.292+197A>G),
46420784(c.292+386T>C),
46420786(c.292+388G>C),
46420794(c.292+396A>G),
46420843(c.292+445G>A),
46420957(c.292+559G>A),
46421029(c.292+631T>A),
46421047(c.292+649G>A),
46421336(c.293-515G>A),
46421789(c.293-62T>G),
46422048(c.347+143G>A),
46422615(c.347+710G>A),
46422835(c.347+930C>T),
46423290(c.347+1385C>A),
46423372(c.347+1467T>C),
46423506(c.347+1601T>C),
46423562(c.347+1657T>C),
46423654(c.347+1749G>A),
46423945(c.347+2040G>A),
46423998(c.347+2093A>G),
46424016(c.347+2111G>A),
46424023(c.347+2118A>G),
46424049(c.347+2144C>T),
46424210(c.347+2305G>A),
46424695(c.347+2790C>T),
46425032(c.347+3127C>T),
46425159(c.347+3254G>A),
46425373(c.347+3468C>T),
46425743(c.348-3211G>A),
46425786(c.348-3168G>A),
46425850(c.348-3104A>G),
46425963(c.348-2991C>T),
46426093(c.348-2861C>T),
46426311(c.348-2643G>A),
46426410(c.348-2544A>G),
46426800(c.348-2154G>A),
46427086(c.348-1868T>C),
46427253(c.348-1701A>G),
46427552(c.348-1402T>C),
46427794(c.348-1160A>G),
46427931(c.348-1023C>T),
46427940(c.348-1014G>A),
46428508(c.348-446T>C),
46428559(c.348-395A>G),
46428613(c.348-341A>C),
46428805(c.348-149G>A),
+1kb
46431206(c.*1889G>A),
46431267(c.*1950A>G),
46431449(c.*2132A>C),
46431490(c.*2173T>G),
46431548(c.*2231A>G),
46431570(c.*2253C>A),
46431593(c.*2276A>G),
46431608(c.*2291G>A),
46431615(c.*2298C>G),
46431630(c.*2313A>G),
46431631(c.*2314T>C),
46431717(c.*2400C>G),
46432003(c.*2686T>A),
46432096(c.*2779C>T),
46432137(c.*2820C>A),
46432140(c.*2823T>C),
46432405(c.*3088T>C),
46432449(c.*3132A>G),
46432938(c.*3621G>A),
46432964(c.*3647A>G),
46433009(c.*3692C>A),
46433016(c.*3699G>A),
46433142(c.*3825C>T),
46433819(c.*4502C>T),
46433948(c.*4631C>T),
46433949(c.*4632T>C),
46433981(c.*4664A>G),
46434006(c.*4689A>C),
46434187(c.*4870T>C),
46434193(c.*4876A>T),
46434266(c.*4949A>G),
46434285(c.*4968C>T),
46434347(c.*5030A>T),
46434791(c.*5474C>T),
46434868(c.*5551A>G),
46434878(c.*5561T>C),
46435044(c.*5727G>A),
46435080(c.*5763G>A),
46435088(c.*5771T>C),
46435242(c.*5925T>C),
46435456(c.*6139T>C),
46435472(c.*6155T>C),
46435536(c.*6219C>T),
46435608(c.*6291T>A),
46435849(c.*6532T>C),
46435976(c.*6659T>A),
46435983(c.*6666C>A),
|
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 | 2 |
non-synonymous num | 1 |
synonymous substitutions |
46429170 (p.Val188Val),
46429266 (p.Ala220Ala),
|
non-synonymous substitutions |
46429033 (p.Ala143Thr),
|
B6 transcript
(ENSMUST00000037923)
|
MHTTQKDTTYTKIFVGGLPYHTTDASLRKYFEVFGDIEEAVVITDRQTGKSRGYGFVTMA
DRAAAERACKDPNPIIDGRKANVNLAYLGAKPRIMQPGFAFGVQQLHPALIQRPFGIPAH
YVYPQAFVQPGVVIPHVQPTAAAASTTPYIDYTGAAYAQYSAAAAAAAAAAAYDQYPYAA
SPAAAGYVTTGGYSYAVQQPITAAAPGTAAAAAAAAAAAAAFGQYQPQQLQTDRMQ*
|
MSMv4 transcript
|
MHTTQKDTTYTKIFVGGLPYHTTDASLRKYFEVFGDIEEAVVITDRQTGKSRGYGFVTMA
DRAAAERACKDPNPIIDGRKANVNLAYLGAKPRIMQPGFAFGVQQLHPALIQRPFGIPAH
YVYPQAFVQPGVVIPHVQPTAATASTTPYIDYTGAAYAQYSAAAAAAAAAAAYDQYPYAA
SPAAAGYVTTGGYSYAVQQPITAAAPGTAAAAAAAAAAAAAFGQYQPQQLQTDRMQ*
|
homology | 99.58 (237 / 237) |
|