Reports |
substitution |
cSNPs | 2 |
Insertion | 10 |
Deletion | 20 |
SNPs |
-1kb
102036527(c.-5064G>A),
102036635(c.-4956T>A),
102036637(c.-4954A>G),
102036659(c.-4932A>G),
102036666(c.-4925G>A),
102036761(c.-4830A>G),
102036777(c.-4814G>A),
102037133(c.-4458A>G),
102037458(c.-4133A>G),
102037667(c.-3924T>A),
102037745(c.-3846A>G),
102037847(c.-3744A>G),
102037958(c.-3633C>A),
102038006(c.-3585C>T),
102038105(c.-3486A>G),
102038401(c.-3190A>G),
102038447(c.-3144G>A),
102038463(c.-3128T>C),
102038481(c.-3110A>G),
102038626(c.-2965G>A),
102038703(c.-2888T>C),
102038988(c.-2603T>G),
102039045(c.-2546C>T),
102039092(c.-2499A>C),
102039099(c.-2492A>C),
102039106(c.-2485A>C),
102039155(c.-2436A>T),
102039173(c.-2418C>T),
102039196(c.-2395A>T),
102039293(c.-2298C>T),
102039308(c.-2283C>T),
102039321(c.-2270A>G),
102039330(c.-2261G>C),
102039357(c.-2234C>T),
102039511(c.-2080C>A),
102039677(c.-1914T>C),
102039741(c.-1850G>A),
102039831(c.-1760G>A),
102039866(c.-1725G>A),
102040009(c.-1582C>T),
102040047(c.-1544C>T),
102040088(c.-1503T>C),
102040120(c.-1471T>A),
102040309(c.-1282C>T),
102040314(c.-1277G>T),
102040321(c.-1270G>A),
102040323(c.-1268G>A),
102040342(c.-1249C>T),
102040405(c.-1186A>G),
102040448(c.-1143A>G),
102040452(c.-1139A>C),
102040457(c.-1134G>T),
102040477(c.-1114T>G),
102040478(c.-1113C>T),
102040479(c.-1112A>C),
102040520(c.-1071A>C),
102040597(c.-994T>C),
102040613(c.-978T>C),
102040768(c.-823G>A),
102040995(c.-596A>G),
102041064(c.-527T>C),
102041122(c.-469T>C),
102041208(c.-383C>T),
102041211(c.-380A>G),
102041283(c.-308T>G),
5'UTR
CDS
3'UTR
INTRON
102041922(c.43+289C>T),
102041934(c.43+301A>G),
102041944(c.43+311A>G),
102042041(c.43+408A>T),
102042046(c.43+413G>T),
102042118(c.43+485A>T),
102042368(c.44-604G>A),
102042424(c.44-548A>G),
102042554(c.44-418A>T),
102042570(c.44-402C>T),
102042581(c.44-391T>C),
102042847(c.44-125C>T),
102042849(c.44-123A>G),
102042853(c.44-119T>G),
102042854(c.44-118T>G),
102042878(c.44-94C>A),
102043461(c.376+157T>C),
102043474(c.376+170T>C),
102043581(c.376+277G>A),
102043623(c.376+319G>A),
102043841(c.376+537C>G),
102043844(c.376+540T>C),
102044236(c.376+932A>G),
102044280(c.376+976A>C),
102044316(c.376+1012A>G),
102044319(c.376+1015C>T),
102044321(c.376+1017C>T),
102044328(c.376+1024C>T),
102044331(c.376+1027C>T),
102044382(c.376+1078G>A),
102044532(c.376+1228T>A),
102044685(c.376+1381A>G),
102045371(c.377-696T>C),
102045430(c.377-637C>T),
102045581(c.377-486A>T),
102045728(c.377-339G>A),
102045843(c.377-224T>C),
102046326(c.508+128T>C),
102046359(c.508+161A>G),
102046932(c.509-174T>C),
102046957(c.509-149T>C),
102046966(c.509-140C>T),
102047011(c.509-95G>A),
102047068(c.509-38T>A),
102047200(c.590+13C>G),
102047315(c.590+128C>T),
102047361(c.590+174A>G),
102047362(c.590+175A>G),
102047627(c.590+440C>G),
102047628(c.590+441C>G),
102047646(c.590+459T>C),
102047657(c.590+470C>T),
102047664(c.590+477C>T),
102047914(c.590+727G>C),
102047916(c.590+729A>T),
102048009(c.591-681G>A),
102048207(c.591-483T>C),
102048352(c.591-338C>T),
102048490(c.591-200C>A),
102048524(c.591-166A>G),
102048530(c.591-160T>C),
102048676(c.591-14T>C),
102048852(c.703+50T>C),
102048864(c.703+62T>C),
102048932(c.703+130A>G),
102049186(c.703+384G>A),
102049209(c.703+407G>A),
102049261(c.703+459G>A),
102049386(c.703+584T>C),
102049510(c.703+708G>A),
102049521(c.703+719A>G),
102049697(c.704-781G>A),
102049731(c.704-747C>G),
102049759(c.704-719A>G),
102049775(c.704-703G>A),
102049901(c.704-577G>A),
102049971(c.704-507G>A),
102049992(c.704-486A>G),
102050007(c.704-471C>T),
102050154(c.704-324T>C),
102050332(c.704-146A>C),
+1kb
102050668(c.*139T>C),
102050697(c.*168C>T),
102050698(c.*169T>G),
102050775(c.*246T>C),
102050832(c.*303A>G),
102050856(c.*327G>A),
102051085(c.*556T>G),
102051089(c.*560T>C),
102051452(c.*923G>A),
102051644(c.*1115A>G),
102051953(c.*1424A>C),
102052121(c.*1592T>G),
102052122(c.*1593T>A),
102052213(c.*1684A>G),
102052216(c.*1687G>A),
102052261(c.*1732A>C),
102052512(c.*1983G>A),
102052514(c.*1985C>A),
102052518(c.*1989A>G),
102052609(c.*2080A>G),
102052620(c.*2091C>G),
102052695(c.*2166T>C),
102052740(c.*2211G>A),
102052859(c.*2330C>T),
102052895(c.*2366G>A),
102052908(c.*2379C>T),
102052966(c.*2437T>G),
102053048(c.*2519G>T),
102053147(c.*2618C>T),
102053162(c.*2633A>G),
102053303(c.*2774T>C),
102053317(c.*2788G>A),
102053356(c.*2827C>T),
102053406(c.*2877A>G),
102053544(c.*3015T>C),
102053657(c.*3128G>A),
102053673(c.*3144C>G),
102053711(c.*3182A>G),
102053743(c.*3214C>A),
102053770(c.*3241C>T),
102053837(c.*3308A>G),
102053854(c.*3325T>G),
102054041(c.*3512T>G),
102054056(c.*3527C>A),
102054195(c.*3666T>C),
102054226(c.*3697C>T),
102054348(c.*3819G>T),
102054458(c.*3929G>A),
102054484(c.*3955A>G),
102054589(c.*4060T>C),
102054598(c.*4069A>G),
102054609(c.*4080G>A),
102054879(c.*4350A>C),
102055462(c.*4933T>C),
102055463(c.*4934T>C),
102055478(c.*4949A>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 | 2 |
non-synonymous num | 0 |
synonymous substitutions |
102047143 (p.Thr182Thr),
102047146 (p.Pro183Pro),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000123895)
|
MRPLVLLWGCLVLPGYEALKGPKEISGFEGDTVSLRCTYVEKMKEHRKYWCRQGGILVSR
CGDIVYANQDQEVTRGRMSIRDSPQELSMTVIMRDLTLKDSGKYWCGIDRLGRDESFEVT
LIVFPGKRDNAVPAGTCCPSSPTPSFQPLTPTRSLQPKAKAWQTQLPEPRSSRPVVWLPL
TTPQDSRAVASSVSKPSVSIPMVRMMAPVLILLSLLLAAGLIAFGSHMLRWRKKAWLATE
TQKNEKVYLET
|
MSMv4 transcript
|
MRPLVLLWGCLVLPGYEALKGPKEISGFEGDTVSLRCTYVEKMKEHRKYWCRQGGILVSR
CGDIVYANQDQEVTRGRMSIRDSPQELSMTVIMRDLTLKDSGKYWCGIDRLGRDESFEVT
LIVFPGKRDNAVPAGTCCPSSPTPSFQPLTPTRSLQPKAKAWQTQLPEPRSSRPVVWLPL
TTPQDSRAVASSVSKPSVSIPMVRMMAPVLILLSLLLAAGLIAFGSHMLRWRKKAWLATE
TQKNEKVYLET
|
homology | 100.00 (251 / 251) |
|