| Reports |
|---|
| substitution |
|---|
| cSNPs | 11 |
|---|
| Insertion | 24 |
|---|
| Deletion | 16 |
|---|
| SNPs |
+1kb
38036988(c.-4516A>C),
38037133(c.-4661G>A),
38037193(c.-4721G>A),
38037397(c.-4925G>C),
38038071(c.-5599A>T),
38038283(c.-5811C>A),
38038706(c.-6234G>A),
38038772(c.-6300G>C),
38039149(c.-6677C>A),
38039417(c.-6945A>G),
38039435(c.-6963A>G),
38039493(c.-7021A>G),
38039494(c.-7022C>T),
38039918(c.-7446C>T),
38040002(c.-7530G>A),
38040086(c.-7614G>C),
38040322(c.-7850G>C),
38040333(c.-7861A>C),
38040450(c.-7978G>A),
38040496(c.-8024G>C),
38040552(c.-8080A>G),
38040597(c.-8125T>C),
38040710(c.-8238C>G),
38040711(c.-8239C>T),
38040954(c.-8482T>C),
38040992(c.-8520T>C),
38041014(c.-8542A>G),
38041025(c.-8553A>C),
38041046(c.-8574T>C),
38041111(c.-8639C>T),
38041251(c.-8779A>C),
38041486(c.-9014T>C),
38041673(c.-9201C>A),
38041795(c.-9323A>G),
38041821(c.-9349G>T),
38041894(c.-9422G>A),
38041897(c.-9425C>G),
- 5'UTR
- CDS
38023308(c.878C>T),
38023370(c.816C>T),
38025301(c.699T>G),
38025423(c.577G>A),
38025514(c.486G>T),
38025540(c.460G>A),
38025593(c.407G>A),
38025616(c.384A>G),
38025622(c.378C>T),
38025657(c.343G>C),
38028137(c.162G>A),
- 3'UTR
- INTRON
38023501(c.718-33G>A),
38023518(c.718-50C>T),
38023546(c.718-78T>C),
38023551(c.718-83G>T),
38023599(c.718-131G>T),
38023863(c.718-395A>G),
38024025(c.718-557G>A),
38024031(c.718-563T>C),
38024051(c.718-583G>A),
38024119(c.718-651G>A),
38024153(c.718-685T>C),
38024164(c.718-696G>A),
38024328(c.718-860G>C),
38024377(c.717+906G>A),
38024402(c.717+881T>C),
38024632(c.717+651T>C),
38024652(c.717+631T>C),
38024790(c.717+493A>G),
38024840(c.717+443A>G),
38024847(c.717+436T>C),
38024865(c.717+418C>T),
38024934(c.717+349C>A),
38025006(c.717+277A>G),
38025007(c.717+276C>T),
38025273(c.717+10G>T),
38025276(c.717+7T>C),
38025890(c.197-87A>G),
38025957(c.197-154A>G),
38025979(c.197-176A>G),
38026104(c.197-301T>A),
38026192(c.197-389A>T),
38026215(c.197-412A>G),
38026218(c.197-415T>G),
38026380(c.197-577A>G),
38026412(c.197-609A>G),
38026429(c.197-626T>G),
38026484(c.197-681A>G),
38026598(c.197-795T>C),
38026610(c.197-807A>T),
38026640(c.197-837C>G),
38026650(c.197-847G>T),
38026690(c.197-887A>C),
38026696(c.197-893A>G),
38026700(c.197-897A>C),
38026880(c.197-1077C>A),
38026909(c.197-1106T>C),
38027002(c.196+1101G>A),
38027009(c.196+1094C>T),
38027211(c.196+892C>A),
38027362(c.196+741T>G),
38027535(c.196+568A>T),
38027539(c.196+564C>T),
38027553(c.196+550G>A),
38027619(c.196+484A>T),
38027885(c.196+218C>A),
38028422(c.109-232T>C),
38028444(c.109-254G>A),
38028462(c.109-272G>A),
38028493(c.109-303G>C),
38028496(c.109-306T>C),
38028876(c.109-686T>G),
38029029(c.109-839T>C),
38029084(c.109-894G>A),
38029273(c.109-1083T>C),
38029322(c.109-1132T>C),
38029349(c.109-1159C>T),
38029352(c.109-1162C>T),
38029447(c.109-1257C>T),
38029576(c.109-1386T>C),
38029931(c.109-1741T>C),
38030624(c.108+1741C>T),
38030633(c.108+1732A>T),
38030649(c.108+1716C>T),
38030650(c.108+1715A>G),
38030652(c.108+1713C>G),
38030697(c.108+1668C>T),
38030721(c.108+1644T>A),
38030856(c.108+1509T>C),
38030863(c.108+1502G>C),
38030865(c.108+1500C>A),
38030891(c.108+1474T>A),
38030911(c.108+1454G>T),
38032675(c.-152-51A>T),
38032720(c.-152-96G>A),
38032743(c.-152-119C>A),
38032822(c.-152-198T>C),
38032890(c.-152-266T>C),
38033137(c.-152-513T>A),
38033272(c.-152-648G>A),
38033366(c.-152-742C>G),
38033367(c.-152-743C>A),
38033401(c.-152-777A>G),
38033616(c.-152-992A>G),
38033703(c.-152-1079G>A),
38033709(c.-152-1085A>G),
38033784(c.-152-1160A>G),
38033794(c.-152-1170C>T),
38033868(c.-152-1244G>A),
38033928(c.-152-1304G>A),
38033997(c.-152-1373C>T),
38034007(c.-152-1383G>A),
38034027(c.-152-1403T>A),
38034039(c.-152-1415G>C),
38034209(c.-152-1585C>T),
38034214(c.-152-1590A>G),
38035009(c.-153+1810G>T),
38035284(c.-153+1535C>T),
38035318(c.-153+1501C>G),
38035322(c.-153+1497A>G),
38035426(c.-153+1393G>A),
38035980(c.-153+839T>C),
38036377(c.-153+442G>A),
38036623(c.-153+196T>G),
-
-1kb
38018242(c.*4989C>G),
38018430(c.*4801G>A),
38018431(c.*4800C>T),
38018432(c.*4799G>T),
38018436(c.*4795C>A),
38018463(c.*4768C>A),
38018545(c.*4686A>G),
38018561(c.*4670A>G),
38018609(c.*4622A>T),
38018860(c.*4371G>A),
38018862(c.*4369A>G),
38018882(c.*4349C>T),
38018916(c.*4315T>G),
38018931(c.*4300A>C),
38019175(c.*4056A>G),
38019224(c.*4007G>A),
38019226(c.*4005C>T),
38019341(c.*3890A>G),
38019358(c.*3873G>A),
38019814(c.*3417A>C),
38020024(c.*3207C>A),
38020328(c.*2903T>G),
38020572(c.*2659A>T),
38020629(c.*2602T>C),
38020716(c.*2515T>C),
38020779(c.*2452G>C),
38020801(c.*2430G>A),
38020865(c.*2366T>A),
38020895(c.*2336T>A),
38020910(c.*2321C>T),
38021253(c.*1978T>G),
38021282(c.*1949T>A),
38021325(c.*1906G>A),
38021347(c.*1884C>T),
38021374(c.*1857A>G),
38021457(c.*1774C>T),
38021466(c.*1765A>T),
38021633(c.*1598A>T),
38021685(c.*1546T>A),
38022281(c.*950A>G),
38022349(c.*882G>A),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
38026224 (c.197-422_197-421insACTTC),
38028411 (c.109-222_109-221insT),
38028496 (c.109-307dupC),
38028499 (c.109-310_109-309insC),
38031009 (c.108+1354_108+1355dupCA),
38033416 (c.-152-793dupA),
38033421 (c.-152-798_-152-797insA),
38033501 (c.-152-878_-152-877insAAAC),
38034229 (c.-152-1606_-152-1605insG),
38034263 (c.-152-1641_-152-1640dupCT),
38035131 (c.-153+1687dupT),
38036153 (c.-153+665dupT),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 6 |
|---|
| non-synonymous num | 5 |
|---|
| synonymous substitutions |
38023370 (p.Leu272Leu),
38025301 (p.Ala233Ala),
38025514 (p.Ala162Ala),
38025616 (p.Val128Val),
38025622 (p.Ser126Ser),
38028137 (p.Glu54Glu),
|
|---|
| non-synonymous substitutions |
38023308 (p.Ser293Phe),
38025423 (p.Val193Ile),
38025540 (p.Glu154Lys),
38025593 (p.Ser136Asn),
38025657 (p.Ala115Pro),
|
|---|
B6 transcript
(ENSMUST00000131066)
|
MSESETINVNGPSQDFSYSDSPFCMEASFSSSDLLQSETKNVKRGNESTHTFSEDIYSTE
GSLLGDINLGNYPESEQNQPANTRLSSLRQFEPICKFHWIEAFNDEMTVEDLRGAFSYSE
KPELPSQVYNDAADGSEKPDPFKEESSVESSISENKDELVPAPVRKSPRSLCLNYYRGEA
QPLTEAPFVRSAVVDVGLNISQPQSFLDKENVCKNGDNSSDRENCFEQLDLRAIYKAEEP
EVSSKEVQNSGEISELSVSHQEEVTEDGVDSLAITSPWSPAGIFKGSGPQDNSLRPDREV
SCEGLEPLEEDMALNEAL
|
|
MSMv4 transcript
|
MSESETINVNGPSQDFSYSDSPFCMEASFSSSDLLQSETKNVKRGNESTHTFSEDIYSTE
GSLLGDINLGNYPESEQNQPANTRLSSLRQFEPICKFHWIEAFNDEMTVEDLRGPFSYSE
KPELPSQVYNDAADGNEKPDPFKEESSVESSISKNKDELVPAPVRKSPRSLCLNYYRGEA
QPLTEAPFVRSAIVDVGLNISQPQSFLDKENVCKNGDNSSDRENCFEQLDLRAIYKAEEP
EVSSKEVQNSGEISELSVSHQEEVTEDGVDSLAITSPWSPAGIFKGSGPQDNFLRPDREV
SCEGLEPLEEDMALNEAL
|
| homology | 98.43 (318 / 318) |
|---|
|
