| Reports |
|---|
| substitution |
|---|
| cSNPs | 7 |
|---|
| Insertion | 16 |
|---|
| Deletion | 28 |
|---|
| SNPs |
+1kb
23383849(c.-798T>C),
23384099(c.-1048T>G),
23384120(c.-1069T>C),
23384131(c.-1080A>G),
23384217(c.-1166C>G),
23384328(c.-1277C>G),
23384419(c.-1368A>G),
23384529(c.-1478C>A),
23384628(c.-1577T>C),
23385112(c.-2061C>A),
23385461(c.-2410A>T),
23385522(c.-2471G>A),
23385667(c.-2616C>G),
23385677(c.-2626C>T),
23386574(c.-3523C>G),
23386692(c.-3641T>C),
23386870(c.-3819A>T),
23386898(c.-3847A>T),
23386901(c.-3850A>G),
23386913(c.-3862G>C),
23386959(c.-3908C>T),
23387029(c.-3978C>T),
23387328(c.-4277G>A),
23387458(c.-4407C>T),
23387504(c.-4453G>T),
23387528(c.-4477T>C),
23387534(c.-4483G>A),
23387582(c.-4531T>C),
23387595(c.-4544C>G),
23387605(c.-4554T>G),
23387633(c.-4582G>A),
23387636(c.-4585A>G),
23387640(c.-4589C>G),
23387686(c.-4635A>G),
23387690(c.-4639G>A),
23387707(c.-4656G>A),
23387771(c.-4720G>T),
23387782(c.-4731G>A),
23387814(c.-4763G>T),
23387889(c.-4838G>A),
23387895(c.-4844C>A),
23387975(c.-4924C>A),
23388036(c.-4985T>C),
23388066(c.-5015A>G),
23388146(c.-5095A>G),
- 5'UTR
- CDS
- 3'UTR
23366529(c.*3220T>G),
23366611(c.*3138T>C),
23366670(c.*3079A>G),
23367044(c.*2705T>C),
23367086(c.*2663G>C),
23367244(c.*2505G>A),
23367310(c.*2439C>T),
23367398(c.*2351T>G),
23367670(c.*2079A>G),
23367687(c.*2062T>C),
23367739(c.*2010T>A),
23367784(c.*1965C>T),
23367814(c.*1935G>T),
23367815(c.*1934T>C),
23367827(c.*1922A>G),
23367887(c.*1862A>G),
23367945(c.*1804C>G),
23367998(c.*1751G>A),
23368118(c.*1631C>A),
23368199(c.*1550G>A),
23368209(c.*1540T>C),
23368321(c.*1428G>A),
23368368(c.*1381C>A),
23368494(c.*1255C>G),
23368548(c.*1201T>C),
23368750(c.*999A>T),
23368926(c.*823A>G),
23368979(c.*770G>A),
23369109(c.*640T>C),
23369126(c.*623T>G),
23369127(c.*622C>T),
23369142(c.*607A>G),
23369229(c.*520G>A),
23369288(c.*461C>G),
23369447(c.*302G>T),
23369524(c.*225T>A),
23369669(c.*80A>G),
23369742(c.*7A>T),
- INTRON
23370753(c.696-305C>T),
23370772(c.696-324C>G),
23370832(c.696-384C>T),
23370834(c.696-386C>T),
23370844(c.696-396T>A),
23371007(c.696-559A>G),
23371025(c.696-577G>A),
23371042(c.696-594C>G),
23371056(c.696-608G>A),
23371095(c.696-647C>T),
23371419(c.696-971A>G),
23371432(c.696-984C>T),
23371614(c.696-1166T>C),
23371616(c.696-1168T>C),
23371617(c.696-1169C>T),
23371695(c.696-1247G>A),
23371796(c.696-1348G>C),
23371815(c.696-1367C>T),
23371901(c.696-1453T>C),
23371924(c.696-1476C>A),
23372032(c.696-1584G>C),
23372069(c.696-1621A>C),
23372117(c.696-1669G>A),
23372126(c.696-1678C>T),
23372135(c.696-1687G>A),
23372314(c.696-1866A>C),
23372362(c.696-1914T>G),
23372640(c.696-2192T>C),
23372643(c.696-2195G>A),
23372656(c.696-2208G>A),
23372660(c.696-2212G>A),
23372688(c.696-2240A>G),
23372771(c.696-2323G>A),
23372774(c.696-2326T>G),
23372788(c.696-2340C>T),
23373036(c.696-2588G>A),
23373099(c.695+2631G>A),
23373353(c.695+2377A>G),
23373750(c.695+1980A>G),
23373827(c.695+1903T>A),
23374044(c.695+1686G>A),
23374057(c.695+1673G>T),
23374083(c.695+1647T>C),
23374154(c.695+1576G>A),
23374848(c.695+882A>G),
23375695(c.695+35T>G),
23376149(c.482+22A>G),
23376159(c.482+12G>A),
23376857(c.404-608T>C),
23376960(c.404-711A>T),
23377012(c.404-763G>A),
23377013(c.404-764G>A),
23377176(c.404-927G>A),
23377218(c.404-969A>G),
23377288(c.404-1039G>A),
23377330(c.404-1081T>G),
23377405(c.404-1156G>A),
23377440(c.404-1191A>G),
23377483(c.404-1234G>A),
23377768(c.403+958T>G),
23377840(c.403+886T>C),
23377855(c.403+871C>T),
23377971(c.403+755G>A),
23378004(c.403+722C>A),
23378053(c.403+673G>A),
23378098(c.403+628T>C),
23378242(c.403+484A>G),
23378380(c.403+346T>A),
23378593(c.403+133G>A),
23378905(c.324+67C>T),
23378922(c.324+50C>T),
23379209(c.238-151G>A),
23379294(c.238-236G>A),
23379296(c.238-238A>G),
23379346(c.238-288C>A),
23379426(c.238-368C>T),
23379511(c.238-453C>T),
23379652(c.238-594C>T),
23379686(c.238-628T>C),
23379706(c.238-648A>G),
23379716(c.238-658A>G),
23379808(c.238-750G>A),
23379840(c.238-782T>A),
23379854(c.238-796G>A),
23379964(c.238-906T>C),
23380159(c.238-1101A>G),
23380303(c.238-1245G>A),
23380522(c.238-1464G>A),
23380537(c.238-1479C>T),
23380588(c.238-1530G>A),
23380616(c.238-1558G>A),
23380619(c.238-1561T>C),
23380645(c.238-1587G>A),
23380675(c.238-1617A>G),
23380756(c.238-1698G>C),
23380994(c.237+1821T>C),
23381193(c.237+1622A>T),
23381194(c.237+1621T>C),
23381213(c.237+1602T>C),
23381214(c.237+1601T>A),
23381237(c.237+1578C>T),
23381297(c.237+1518C>T),
23381298(c.237+1517G>A),
23381443(c.237+1372G>A),
23381446(c.237+1369G>T),
23381730(c.237+1085C>G),
23382172(c.237+643T>C),
23382184(c.237+631C>T),
23382455(c.237+360G>T),
-
-1kb
23361513(c.*8236C>T),
23361521(c.*8228C>T),
23361565(c.*8184A>C),
23361668(c.*8081G>A),
23361956(c.*7793G>T),
23362029(c.*7720T>G),
23362044(c.*7705A>C),
23362257(c.*7492G>C),
23362332(c.*7417G>A),
23362351(c.*7398T>G),
23362366(c.*7383G>T),
23363903(c.*5846G>A),
23364063(c.*5686T>C),
23364179(c.*5570G>A),
23364380(c.*5369T>A),
23364487(c.*5262G>T),
23364533(c.*5216T>G),
23364632(c.*5117C>T),
23364698(c.*5051A>G),
23364855(c.*4894T>C),
23364985(c.*4764G>A),
23364988(c.*4761C>T),
23365063(c.*4686T>G),
23365104(c.*4645T>C),
23365244(c.*4505A>G),
23365268(c.*4481G>A),
23365490(c.*4259A>C),
23365506(c.*4243C>G),
23365627(c.*4122C>T),
23365658(c.*4091T>A),
23365709(c.*4040T>C),
23365799(c.*3950A>G),
23365844(c.*3905G>A),
23365848(c.*3901C>T),
23365922(c.*3827G>T),
23366268(c.*3481G>T),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
23371181 (c.696-735_696-734delTT),
23371679 (c.696-1232delC),
23373921 (c.695+1808delT),
23374668 (c.695+1057_695+1061delAAAAA),
23374777 (c.695+950_695+952delTTC),
23376064 (c.483-13_483-11delTTT),
23377070 (c.404-822delA),
23377419 (c.404-1174_404-1171delTTAA),
23377659 (c.403+1059_403+1066delCGTGTGTG),
23380906 (c.238-1849delG),
23381129 (c.237+1684_237+1685delAA),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 5 |
|---|
| non-synonymous num | 2 |
|---|
| synonymous substitutions |
23369782 (p.Gln454Gln),
23370388 (p.Tyr252Tyr),
23375765 (p.Ala220Ala),
23376045 (p.Pro164Pro),
23382971 (p.Ser27Ser),
|
|---|
| non-synonymous substitutions |
23369777 (p.Ala456Val),
23370084 (p.Pro354Ser),
|
|---|
B6 transcript
(ENSMUST00000027343)
|
MGNLLGGVSFREPTTVEDCDSTWQTDSEPEPEQPGPAGGGEGQQHDEPEQPKQPPERAGG
RPRASPVPEDHAEAAGAEQGGESTEGNAKPKRSFYAARDLYKYRHQYPNFKDIRYQNDLS
NLRFYKNKIPFKPDGVYIEEVLNKWKGDYEKLEHNHTYIQWLFPLREQGLNFYAKELTTY
EIEEFKKTKEAIRRFLLAYKMMLEFFGIKLIDKTGNVARAGNWQERFQHLNESQHNYLRI
TRILKSLGELGYESFKSPLVKFILHEALVENTIPNIKQSALEYFVYTIRDRRERRKLLRF
AQKHYTPSENFIWGPPKKELPERSKAQKTPTLPASGSNGQTSTHKKSKDSKISPGASHVN
SKSVEEKKGASREPGEEADKPSPEPGSGDPKPRNTEKDSAADQSDSPPEKTVPDTAGKGE
CPTSSEKDGEGEDQSKDSENPENAGCHAEVVAQQNATNPQTSSG*
|
|
MSMv4 transcript
|
MGNLLGGVSFREPTTVEDCDSTWQTDSEPEPEQPGPAGGGEGQQHDEPEQPKQPPERAGG
RPRASPVPEDHAEAAGAEQGGESTEGNAKPKRSFYAARDLYKYRHQYPNFKDIRYQNDLS
NLRFYKNKIPFKPDGVYIEEVLNKWKGDYEKLEHNHTYIQWLFPLREQGLNFYAKELTTY
EIEEFKKTKEAIRRFLLAYKMMLEFFGIKLIDKTGNVARAGNWQERFQHLNESQHNYLRI
TRILKSLGELGYESFKSPLVKFILHEALVENTIPNIKQSALEYFVYTIRDRRERRKLLRF
AQKHYTPSENFIWGPPKKELPERSKAQKTPTLPASGSNGQTSTHKKSKDSKISSGASHVN
SKSVEEKKGASREPGEEADKPSPEPGSGDPKPRNTEKDSAADQSDSPPEKTVPDTAGKGE
CPTSSEKDGEGEDQSKDSENPENAGCHAEVVAQQNVTNPQTSSG*
|
| homology | 99.57 (465 / 465) |
|---|
|
