| Reports |
|---|
| substitution |
|---|
| cSNPs | 4 |
|---|
| Insertion | 10 |
|---|
| Deletion | 12 |
|---|
| SNPs |
-1kb
110716660(c.-14561T>A),
110716926(c.-14295G>A),
110717005(c.-14216A>T),
110717022(c.-14199A>T),
110717081(c.-14140G>A),
110717394(c.-13827A>G),
110717455(c.-13766A>G),
110717624(c.-13597C>T),
110717625(c.-13596T>C),
110717803(c.-13418C>T),
110717827(c.-13394A>G),
110718300(c.-12921G>A),
110718322(c.-12899C>T),
110718418(c.-12803T>C),
110718441(c.-12780G>A),
110718577(c.-12644T>C),
110718675(c.-12546G>A),
110718724(c.-12497T>A),
110718824(c.-12397A>G),
110718987(c.-12234T>C),
110719159(c.-12062T>C),
110719175(c.-12046G>A),
110719432(c.-11789T>C),
110719437(c.-11784A>G),
110719595(c.-11626C>T),
110719606(c.-11615G>A),
110719629(c.-11592A>C),
110719749(c.-11472T>C),
110719781(c.-11440C>T),
110719783(c.-11438A>T),
110719887(c.-11334C>A),
110720000(c.-11221C>T),
110720346(c.-10875G>C),
110720359(c.-10862C>T),
110720368(c.-10853G>T),
110720392(c.-10829T>C),
110720489(c.-10732C>T),
110720603(c.-10618A>C),
110720640(c.-10581G>A),
110720727(c.-10494T>C),
110720739(c.-10482T>G),
110720808(c.-10413A>G),
110720821(c.-10400C>A),
110720836(c.-10385C>T),
110720894(c.-10327A>G),
110720938(c.-10283G>A),
110721061(c.-10160C>T),
110721094(c.-10127T>C),
110721109(c.-10112T>C),
110721132(c.-10089C>T),
110721167(c.-10054G>A),
110721173(c.-10048G>A),
110721228(c.-9993A>C),
- 5'UTR
- CDS
- 3'UTR
110721690(c.-55T>C),
110737433(c.*12A>G),
110737501(c.*80A>G),
110737629(c.*208C>G),
110737734(c.*313T>G),
110737776(c.*355T>C),
110737801(c.*380C>T),
110737862(c.*441T>G),
110737919(c.*498C>T),
110737921(c.*500G>A),
110737973(c.*552G>A),
110738034(c.*613T>C),
110738049(c.*628C>T),
110738103(c.*682T>C),
110738109(c.*688T>C),
110738306(c.*885G>A),
110738415(c.*994T>G),
110738438(c.*1017G>A),
110738443(c.*1022T>C),
110738449(c.*1028T>A),
110738464(c.*1043A>G),
110738519(c.*1098C>A),
110738675(c.*1254C>T),
110738681(c.*1260C>T),
110738682(c.*1261A>G),
110739047(c.*1626C>T),
110739198(c.*1777T>G),
110739302(c.*1881G>T),
110739310(c.*1889A>G),
110739514(c.*2093A>C),
- INTRON
110721784(c.-38+77C>T),
110721807(c.-38+100T>C),
110722122(c.-38+415A>G),
110722203(c.-38+496A>T),
110722368(c.-38+661A>T),
110722502(c.-38+795C>T),
110722595(c.-38+888T>C),
110722733(c.-38+1026A>G),
110722735(c.-38+1028A>G),
110722737(c.-38+1030A>G),
110722940(c.-38+1233C>T),
110723770(c.-38+2063C>A),
110724310(c.-38+2603C>T),
110724448(c.-38+2741A>G),
110725822(c.-38+4115A>G),
110726032(c.-38+4325G>T),
110726535(c.-37-4649C>A),
110727107(c.-37-4077G>A),
110727121(c.-37-4063C>T),
110727198(c.-37-3986T>C),
110727502(c.-37-3682G>A),
110727939(c.-37-3245T>G),
110727965(c.-37-3219G>A),
110728236(c.-37-2948T>C),
110729193(c.-37-1991T>C),
110729238(c.-37-1946T>C),
110729513(c.-37-1671C>T),
110729533(c.-37-1651T>C),
110729795(c.-37-1389A>G),
110729801(c.-37-1383A>G),
110729811(c.-37-1373T>C),
110729812(c.-37-1372A>T),
110729994(c.-37-1190T>C),
110730477(c.-37-707C>A),
110730501(c.-37-683T>C),
110730529(c.-37-655A>G),
110730767(c.-37-417T>G),
110730965(c.-37-219A>G),
110732281(c.685+376A>G),
110732360(c.685+455C>A),
110732647(c.685+742A>C),
110733048(c.686-758A>G),
110733558(c.686-248A>G),
110734011(c.835+56C>G),
110735967(c.836-1435A>T),
110735971(c.836-1431T>C),
110735986(c.836-1416A>G),
110735996(c.836-1406A>G),
110735997(c.836-1405C>T),
110736357(c.836-1045T>A),
110736364(c.836-1038A>T),
110736669(c.836-733T>G),
110737132(c.836-270G>T),
110737141(c.836-261C>T),
-
+1kb
110739586(c.*2165G>T),
110739762(c.*2341C>T),
110739840(c.*2419C>T),
110739979(c.*2558G>C),
110740011(c.*2590T>G),
110740194(c.*2773T>C),
110740270(c.*2849A>G),
110740412(c.*2991G>T),
110740465(c.*3044T>C),
110740542(c.*3121C>A),
110740563(c.*3142G>A),
110740592(c.*3171C>A),
110740722(c.*3301C>T),
110740805(c.*3384T>G),
110740836(c.*3415G>A),
110741027(c.*3606G>A),
110741069(c.*3648G>A),
110741106(c.*3685G>A),
110741508(c.*4087A>C),
110741595(c.*4174A>G),
110741741(c.*4320T>C),
110741776(c.*4355T>A),
110741925(c.*4504C>T),
110742022(c.*4601T>C),
110742451(c.*5030T>A),
110742645(c.*5224C>A),
110742877(c.*5456T>G),
110744203(c.*6782G>A),
110744280(c.*6859C>T),
110744516(c.*7095T>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 | 1 |
|---|
| non-synonymous num | 3 |
|---|
| synonymous substitutions |
110731844 (p.Gln208Gln),
|
|---|
| non-synonymous substitutions |
110731362 (p.His48Tyr),
110731522 (p.Ser101Tyr),
110731530 (p.Tyr104His),
|
|---|
B6 transcript
(ENSMUST00000111017)
|
MLTLAKIALISSLFISLPFARPQKQNPRRNVTQHTIEDVKIMRNNSIHLERSINVTSENG
SDISNLMVTTPSPLNLSTTFRTTNSTRTWLMTSSSESSRPSSTYSVPPLVQGFVSKLPLN
SSTADANPLQVSEHSNSTNSPSPENFTWSLDNDTMNSPEDISTTVRPFPPPPKTTPVTPF
TAEPTEWLPTNNDNFAGFTPYQEKTTLQPTLKFTNNSKLFPNTSDTPKENKNTGIVFGAI
LGAILGASLLSLVGYLLCGQRKTDSFSHRRLYDDRNEPVTTTQL*
|
|
MSMv4 transcript
|
MLTLAKIALISSLFISLPFARPQKQNPRRNVTQHTIEDVKIMRNNSIYLERSINVTSENG
SDISNLMVTTPSPLNLSTTFRTTNSTRTWLMTSSSESSRPYSTHSVPPLVQGFVSKLPLN
SSTADANPLQVSEHSNSTNSPSPENFTWSLDNDTMNSPEDISTTVRPFPPPPKTTPVTPF
TAEPTEWLPTNNDNFAGFTPYQEKTTLQPTLKFTNNSKLFPNTSDTPKENKNTGIVFGAI
LGAILGASLLSLVGYLLCGQRKTDSFSHRRLYDDRNEPVTTTQL*
|
| homology | 98.95 (285 / 285) |
|---|
|
