| Reports |
|---|
| substitution |
|---|
| cSNPs | 2 |
|---|
| Insertion | 28 |
|---|
| Deletion | 29 |
|---|
| SNPs |
+1kb
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),
47111111(c.-5383A>C),
47111139(c.-5411C>T),
47111167(c.-5439C>T),
- 5'UTR
- CDS
- 3'UTR
- INTRON
47088768(c.586-153G>A),
47089009(c.586-394T>G),
47089273(c.586-658T>G),
47089395(c.586-780C>A),
47089694(c.586-1079A>G),
47089787(c.586-1172G>T),
47090012(c.586-1397T>C),
47090206(c.586-1591G>A),
47090487(c.586-1872A>G),
47090498(c.586-1883A>G),
47090528(c.586-1913T>C),
47090903(c.586-2288A>G),
47091011(c.586-2396C>T),
47091115(c.586-2500G>C),
47091166(c.586-2551A>G),
47091193(c.586-2578G>A),
47091335(c.586-2720G>A),
47091563(c.586-2948T>C),
47091712(c.586-3097T>C),
47091716(c.586-3101T>C),
47091720(c.586-3105T>C),
47091724(c.586-3109T>C),
47091728(c.586-3113T>C),
47091756(c.586-3141T>A),
47091799(c.586-3184A>G),
47092056(c.586-3441T>G),
47092088(c.586-3473A>G),
47092183(c.586-3568C>A),
47092703(c.586-4088G>A),
47092736(c.586-4121A>G),
47092926(c.586-4311A>G),
47092968(c.586-4353G>A),
47092988(c.586-4373T>C),
47093353(c.586-4738C>T),
47093627(c.586-5012T>G),
47093632(c.586-5017A>T),
47093645(c.586-5030G>A),
47093665(c.586-5050T>C),
47093745(c.586-5130G>T),
47094186(c.585+5157T>A),
47094187(c.585+5156T>A),
47094275(c.585+5068A>G),
47094303(c.585+5040C>G),
47094361(c.585+4982T>C),
47094756(c.585+4587G>A),
47094777(c.585+4566C>T),
47094977(c.585+4366C>G),
47094979(c.585+4364T>C),
47095065(c.585+4278C>T),
47095148(c.585+4195G>A),
47095173(c.585+4170G>A),
47095187(c.585+4156T>C),
47095265(c.585+4078G>A),
47095558(c.585+3785A>G),
47095646(c.585+3697T>C),
47096117(c.585+3226C>A),
47096158(c.585+3185G>A),
47096219(c.585+3124T>G),
47096223(c.585+3120T>C),
47096399(c.585+2944T>C),
47096498(c.585+2845C>T),
47096542(c.585+2801A>G),
47096684(c.585+2659T>A),
47096845(c.585+2498C>G),
47096891(c.585+2452G>A),
47096980(c.585+2363T>C),
47097024(c.585+2319G>A),
47097083(c.585+2260C>T),
47097225(c.585+2118A>G),
47097250(c.585+2093A>G),
47097362(c.585+1981A>G),
47097376(c.585+1967T>A),
47097497(c.585+1846G>T),
47097766(c.585+1577T>C),
47097841(c.585+1502A>G),
47098185(c.585+1158G>A),
47098272(c.585+1071G>A),
47098278(c.585+1065A>G),
47098503(c.585+840T>C),
47098530(c.585+813C>T),
47098553(c.585+790T>C),
47098588(c.585+755C>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),
47105838(c.-9-101A>G),
47105839(c.-9-102C>G),
47105899(c.-9-162A>G),
-
-1kb
47083809(c.*4786G>A),
47084695(c.*3900C>T),
47084715(c.*3880C>A),
47084840(c.*3755G>A),
47085338(c.*3257C>T),
47085385(c.*3210C>T),
47085587(c.*3008C>T),
47085914(c.*2681T>C),
47086131(c.*2464A>G),
47086513(c.*2082A>C),
47087081(c.*1514A>G),
47087277(c.*1318C>A),
47087334(c.*1261T>C),
47087540(c.*1055A>T),
47087797(c.*798C>T),
47087830(c.*765G>A),
47087849(c.*746G>T),
47087891(c.*704C>G),
47088262(c.*333C>T),
47088563(c.*32C>T),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
47090033 (c.586-1419_586-1418insAACAC),
47090761 (c.586-2147_586-2146insGAG),
47090974 (c.586-2360_586-2359insTATT),
47092610 (c.586-3996dupT),
47092864 (c.586-4253_586-4250dupCACA),
47092871 (c.586-4257_586-4256insAACAC),
47094173 (c.585+5169_585+5170insAT),
47094299 (c.585+5043_585+5044insG),
47094305 (c.585+5037_585+5038insG),
47095902 (c.585+3438_585+3440dupTTT),
47095906 (c.585+3434_585+3436dupTTT),
47097699 (c.585+1641_585+1643dupGTT),
47098735 (c.585+607_585+608insG),
47100512 (c.370-245_370-244insT),
47101066 (c.369+556_369+557insC),
47101804 (c.260-73dupG),
47104493 (c.157+1078_157+1079insCC),
47104761 (c.157+810_157+811insT),
47104988 (c.157+583dupA),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
47089221 (c.586-612_586-607delGGTTTT),
47089279 (c.586-665delA),
47092777 (c.586-4163delG),
47092804 (c.586-4190delT),
47093241 (c.586-4632_586-4627delATTTTT),
47094013 (c.585+5329delT),
47094276 (c.585+5061_585+5066delTCTCTA),
47094456 (c.585+4885_585+4886delGG),
47094841 (c.585+4498_585+4501delAAAC),
47094931 (c.585+4403_585+4411delGATAAAGAT),
47095830 (c.585+3503_585+3512delACTCTGTGTG),
47097942 (c.585+1400delA),
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 | 2 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
47105600 (p.Asp43Asp),
47105657 (p.Pro24Pro),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000135278)
|
MSAAAAPAAEGEDAPVPPSSEKEPEMPGPREESEEEEEDDEDDDEEDEEEEKEKSLIVEG
KREKKKVERLTMQVSSLQREPFTVTQGKGQKLCEIERIHFFLSKKKPDELRNLHKLLYNR
PGTVSSLKKNVGQFSGFPFEKGSTQYKKKEEMLKKFRNAMLKSICEVLDLERSGVNSELV
KRILNFLMHPKPSGKQPPKKTS
|
|
MSMv4 transcript
|
MSAAAAPAAEGEDAPVPPSSEKEPEMPGPREESEEEEEDDEDDDEEDEEEEKEKSLIVEG
KREKKKVERLTMQVSSLQREPFTVTQGKGQKLCEIERIHFFLSKKKPDELRNLHKLLYNR
PGTVSSLKKNVGQFSGFPFEKGSTQYKKKEEMLKKFRNAMLKSICEVLDLERSGVNSELV
KRILNFLMHPKPSGKQPPKKTS
|
| homology | 100.00 (202 / 202) |
|---|
|
