| Reports |
|---|
| substitution |
|---|
| cSNPs | 4 |
|---|
| Insertion | 15 |
|---|
| Deletion | 20 |
|---|
| SNPs |
-1kb
16660250(c.-5058G>A),
16660385(c.-4923C>T),
16660393(c.-4915C>T),
16661104(c.-4204T>C),
16661209(c.-4099A>C),
16661356(c.-3952A>G),
16661399(c.-3909A>T),
16661574(c.-3734T>C),
16661593(c.-3715T>C),
16661799(c.-3509T>C),
16661868(c.-3440A>G),
16661874(c.-3434G>C),
16662046(c.-3262T>A),
16662143(c.-3165C>T),
16662152(c.-3156T>C),
16662162(c.-3146A>G),
16662164(c.-3144C>T),
16662254(c.-3054C>T),
16662320(c.-2988A>G),
16662326(c.-2982A>T),
16662355(c.-2953T>C),
16662440(c.-2868G>A),
16662533(c.-2775G>A),
16662598(c.-2710C>G),
16662616(c.-2692T>C),
16662905(c.-2403G>A),
16663105(c.-2203A>C),
16663121(c.-2187T>C),
16663129(c.-2179C>T),
16663138(c.-2170T>C),
16663173(c.-2135G>C),
16663339(c.-1969T>C),
16663393(c.-1915A>G),
16663506(c.-1802G>A),
16663690(c.-1618G>T),
16663711(c.-1597A>G),
16663716(c.-1592G>T),
16663786(c.-1522A>G),
16663845(c.-1463T>A),
16663928(c.-1380T>C),
16663952(c.-1356T>G),
16664076(c.-1232T>C),
16664151(c.-1157G>A),
16664199(c.-1109G>A),
16664318(c.-990C>G),
16664550(c.-758G>A),
16664815(c.-493T>G),
16664833(c.-475A>C),
16664905(c.-403G>C),
16664906(c.-402C>A),
16664907(c.-401G>T),
16664932(c.-376G>T),
16665032(c.-276G>C),
16665082(c.-226A>G),
16665088(c.-220G>A),
16665106(c.-202A>C),
- 5'UTR
- CDS
- 3'UTR
- INTRON
16665884(c.198+379G>A),
16665965(c.198+460G>A),
16665993(c.198+488T>C),
16666004(c.198+499C>G),
16666351(c.198+846A>T),
16666417(c.198+912A>G),
16666599(c.199-1066G>A),
16667050(c.199-615A>T),
16667090(c.199-575C>A),
16667104(c.199-561T>C),
16667148(c.199-517T>A),
16667229(c.199-436T>C),
16667235(c.199-430G>T),
16667320(c.199-345C>T),
16667322(c.199-343T>G),
16667332(c.199-333C>T),
16667421(c.199-244G>C),
16667430(c.199-235C>A),
16667490(c.199-175C>T),
16667497(c.199-168G>A),
16667512(c.199-153C>A),
16667910(c.307+137A>G),
16667914(c.307+141C>T),
16668318(c.307+545A>G),
16668329(c.307+556T>C),
16668661(c.307+888C>T),
16668928(c.307+1155A>G),
16668985(c.307+1212A>T),
16668991(c.307+1218G>A),
16669179(c.307+1406G>C),
16669427(c.307+1654C>T),
16669430(c.307+1657C>T),
16669609(c.307+1836G>A),
16669793(c.307+2020G>T),
16669806(c.307+2033A>T),
16670083(c.307+2310G>A),
16670176(c.307+2403A>G),
16670196(c.307+2423G>A),
16670897(c.307+3124A>C),
16670920(c.307+3147T>C),
16670942(c.307+3169T>A),
16670947(c.307+3174C>T),
16670984(c.307+3211C>G),
16671367(c.307+3594C>G),
16671487(c.307+3714A>T),
16671495(c.307+3722T>C),
16671597(c.307+3824G>A),
16671598(c.307+3825T>G),
16671617(c.307+3844G>T),
16671913(c.307+4140C>T),
16671963(c.307+4190C>T),
16672059(c.307+4286T>C),
16672088(c.307+4315T>A),
16672360(c.307+4587C>T),
16672501(c.308-4467G>T),
16672511(c.308-4457G>A),
16672585(c.308-4383A>G),
16672672(c.308-4296A>G),
16672795(c.308-4173T>C),
16672832(c.308-4136T>C),
16672884(c.308-4084T>A),
16672885(c.308-4083T>A),
16673168(c.308-3800T>C),
16673273(c.308-3695T>A),
16674687(c.308-2281C>T),
16674845(c.308-2123C>T),
16675822(c.308-1146T>C),
16675845(c.308-1123A>G),
-
+1kb
16678456(c.*1031T>C),
16678865(c.*1440A>G),
16679159(c.*1734A>C),
16679468(c.*2043A>G),
16679512(c.*2087C>T),
16679662(c.*2237C>T),
16679742(c.*2317T>C),
16679793(c.*2368G>A),
16680449(c.*3024T>G),
16680506(c.*3081T>G),
16680842(c.*3417T>C),
16680853(c.*3428A>G),
16681630(c.*4205G>A),
16681655(c.*4230C>T),
16681811(c.*4386C>G),
16681843(c.*4418G>T),
16681985(c.*4560G>T),
16682006(c.*4581T>C),
16682414(c.*4989A>C),
16682439(c.*5014T>A),
16682455(c.*5030T>C),
16682480(c.*5055C>G),
16682593(c.*5168T>C),
16682710(c.*5285A>T),
16682899(c.*5474T>C),
16683060(c.*5635C>T),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
16666792 (c.199-870_199-868delGAG),
16667284 (c.199-373_199-370delGTAC),
16667601 (c.199-59delA),
16668211 (c.307+439_307+444delGGTGTT),
16669832 (c.307+2064delG),
16671432 (c.307+3660delC),
16671888 (c.307+4121_307+4124delTAGT),
16673423 (c.308-3544delT),
16673604 (c.308-3363delA),
16674809 (c.308-2137_308-2134delGTCT),
16676120 (c.308-845_308-842delAATT),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 2 |
|---|
| non-synonymous num | 2 |
|---|
| synonymous substitutions |
16665388 (p.Ala27Ala),
16665403 (p.Gly32Gly),
|
|---|
| non-synonymous substitutions |
16665458 (p.Gly51Trp),
16667684 (p.Glu73Gly),
|
|---|
B6 transcript
(ENSMUST00000177501)
|
MLLGLGGRWAAGLWPGRTRTTWCVAAALRGSGIAFWRAASLAEPERLRSGGHLALAESCG
PPGRAQQIPVCWEQCVRCFHTQVDKPENGRLIYTGNLARTIFGVKCFSYSTSVVSLAFLP
YLLSQNNMMFGSLPLQVLFYGVMGSFTVITPTLLHLLTKGYVIRLYHEATSDTYRAVTYN
VMLSETSTVFHQDDVTIPESAHIFTSFYAKTKSLLVNPALFLNPEDYNHLMGYDKPFTFD
MEEVDEKKLHEGEK*
|
|
MSMv4 transcript
|
MLLGLGGRWAAGLWPGRTRTTWCVAAALRGSGIAFWRAASLAEPERLRSGWHLALAESCG
PPGRAQQIPVCWGQCVRCFHTQVDKPENGRLIYTGNLARTIFGVKCFSYSTSVVSLAFLP
YLLSQNNMMFGSLPLQVLFYGVMGSFTVITPTLLHLLTKGYVIRLYHEATSDTYRAVTYN
VMLSETSTVFHQDDVTIPESAHIFTSFYAKTKSLLVNPALFLNPEDYNHLMGYDKPFTFD
MEEVDEKKLHEGEK*
|
| homology | 99.22 (255 / 255) |
|---|
|
