| Reports |
| substitution |
| cSNPs | 5 |
| Insertion | 17 |
| Deletion | 25 |
| SNPs |
+1kb
47105838(c.-110A>G),
47105839(c.-111C>G),
47105899(c.-171A>G),
47106114(c.-386C>A),
47106343(c.-615G>A),
47106401(c.-673G>A),
47106595(c.-867C>T),
47106619(c.-891T>C),
47106696(c.-968C>T),
47106763(c.-1035G>A),
47107108(c.-1380G>T),
47107250(c.-1522G>T),
47107304(c.-1576A>G),
47107519(c.-1791T>C),
47107601(c.-1873G>A),
47107602(c.-1874C>T),
47107673(c.-1945T>G),
47107678(c.-1950A>G),
47107701(c.-1973C>T),
47107790(c.-2062C>T),
47107948(c.-2220T>C),
47107961(c.-2233C>T),
47108150(c.-2422T>A),
47108224(c.-2496C>T),
47109018(c.-3290C>T),
47109035(c.-3307A>C),
47109036(c.-3308G>T),
47109219(c.-3491C>T),
47109277(c.-3549G>A),
47109370(c.-3642C>G),
47109641(c.-3913G>A),
47109892(c.-4164A>C),
47110628(c.-4900T>C),
47110667(c.-4939G>T),
47110717(c.-4989G>A),
5'UTR
CDS
3'UTR
INTRON
47098503(c.586-160T>C),
47098530(c.586-187C>T),
47098553(c.586-210T>C),
47098588(c.586-245C>A),
47099583(c.465-120A>G),
47099711(c.465-248G>A),
47099918(c.464+256C>G),
47099998(c.464+176G>A),
47100068(c.464+106G>A),
47100070(c.464+104C>G),
47100085(c.464+89T>C),
47100330(c.370-62C>T),
47100349(c.370-81G>A),
47100378(c.370-110G>T),
47100417(c.370-149T>C),
47100810(c.370-542A>G),
47100848(c.370-580A>G),
47100952(c.369+671G>C),
47101016(c.369+607G>A),
47101228(c.369+395G>T),
47101306(c.369+317C>T),
47101345(c.369+278T>C),
47101396(c.369+227C>T),
47101893(c.259+80C>A),
47102095(c.158-21G>A),
47102148(c.158-74A>G),
47102195(c.158-121A>G),
47102203(c.158-129G>A),
47102207(c.158-133T>C),
47102462(c.158-388C>A),
47102486(c.158-412T>C),
47102492(c.158-418C>T),
47102647(c.158-573T>C),
47102818(c.158-744T>C),
47102892(c.158-818A>G),
47103051(c.158-977C>G),
47103110(c.158-1036C>A),
47103136(c.158-1062A>G),
47103265(c.158-1191A>G),
47103344(c.158-1270T>C),
47103358(c.158-1284A>G),
47103494(c.158-1420C>T),
47103546(c.158-1472C>T),
47103611(c.158-1537G>A),
47103645(c.158-1571G>T),
47103783(c.158-1709C>T),
47103941(c.157+1631A>G),
47103990(c.157+1582A>G),
47103992(c.157+1580A>G),
47104235(c.157+1337A>G),
47104273(c.157+1299C>T),
47104339(c.157+1233T>C),
47104356(c.157+1216A>G),
47104413(c.157+1159G>A),
47104432(c.157+1140G>A),
47104560(c.157+1012G>T),
47104653(c.157+919A>G),
47104670(c.157+902C>T),
47104688(c.157+884T>C),
47104922(c.157+650A>G),
47105108(c.157+464T>C),
47105183(c.157+389G>A),
47105271(c.157+301T>C),
47105483(c.157+89A>G),
47105493(c.157+79C>T),
47105525(c.157+47T>C),
-1kb
47093353(c.*4802C>T),
47093627(c.*4528T>G),
47093632(c.*4523A>T),
47093645(c.*4510G>A),
47093665(c.*4490T>C),
47093745(c.*4410G>T),
47094186(c.*3969T>A),
47094187(c.*3968T>A),
47094275(c.*3880A>G),
47094303(c.*3852C>G),
47094361(c.*3794T>C),
47094756(c.*3399G>A),
47094777(c.*3378C>T),
47094977(c.*3178C>G),
47094979(c.*3176T>C),
47095065(c.*3090C>T),
47095148(c.*3007G>A),
47095173(c.*2982G>A),
47095187(c.*2968T>C),
47095265(c.*2890G>A),
47095558(c.*2597A>G),
47095646(c.*2509T>C),
47096117(c.*2038C>A),
47096158(c.*1997G>A),
47096219(c.*1936T>G),
47096223(c.*1932T>C),
47096399(c.*1756T>C),
47096498(c.*1657C>T),
47096542(c.*1613A>G),
47096684(c.*1471T>A),
47096845(c.*1310C>G),
47096891(c.*1264G>A),
47096980(c.*1175T>C),
47097024(c.*1131G>A),
47097083(c.*1072C>T),
47097225(c.*930A>G),
47097250(c.*905A>G),
47097362(c.*793A>G),
47097376(c.*779T>A),
47097497(c.*658G>T),
47097766(c.*389T>C),
47097841(c.*314A>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
47098886 (c.585+456delT),
47099070 (c.585+270_585+272delTGC),
47099470 (c.465-9_465-8delCT),
47100287 (c.370-27_370-20delAGTAGCAT),
47100530 (c.370-263delA),
47100536 (c.370-269delA),
47103560 (c.158-1493_158-1487delGACTTGG),
47104209 (c.157+1361_157+1362delTT),
47104761 (c.157+808_157+810delTTC),
47104769 (c.157+802delT),
47104774 (c.157+795_157+797delTTC),
47105376 (c.157+187_157+195delTTTTTTTTT),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 0 |
| synonymous substitutions |
47098185 (p.Ser248Ser),
47098272 (p.Arg219Arg),
47098278 (p.Thr217Thr),
47105600 (p.Asp43Asp),
47105657 (p.Pro24Pro),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000129352)
|
MSAAAAPAAEGEDAPVPPSSEKEPEMPGPREESEEEEEDDEDDDEEDEEEEKEKSLIVEG
KREKKKVERLTMQVSSLQREPFTVTQGKGQKLCEIERIHFFLSKKKPDELRNLHKLLYNR
PGTVSSLKKNVGQFSGFPFEKGSTQYKKKEEMLKKFRNAMLKSICEVLDLERSGVNSELV
KRILNFLMHPKPSGKPLPKSKKSSSKGSKKERNSSGTTRKSKQTKCPEILSDESSSDEDE
KKNKEESSEDEEKESEEE
|
|
MSMv4 transcript
|
MSAAAAPAAEGEDAPVPPSSEKEPEMPGPREESEEEEEDDEDDDEEDEEEEKEKSLIVEG
KREKKKVERLTMQVSSLQREPFTVTQGKGQKLCEIERIHFFLSKKKPDELRNLHKLLYNR
PGTVSSLKKNVGQFSGFPFEKGSTQYKKKEEMLKKFRNAMLKSICEVLDLERSGVNSELV
KRILNFLMHPKPSGKPLPKSKKSSSKGSKKERNSSGTTRKSKQTKCPEILSDESSSDEDE
KKNKEESSEDEEKESEEE
|
| homology | 100.00 (258 / 258) |
|