| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 3 |
| Deletion | 14 |
| SNPs |
-1kb
54784633(c.-4962A>T),
54784761(c.-4834G>A),
54784787(c.-4808G>A),
54784863(c.-4732G>A),
54784928(c.-4667G>T),
54785096(c.-4499C>T),
54785193(c.-4402G>A),
54785458(c.-4137G>A),
54785672(c.-3923C>T),
54785766(c.-3829T>C),
54785896(c.-3699G>T),
54786164(c.-3431T>C),
54786368(c.-3227G>T),
54786378(c.-3217T>C),
54786416(c.-3179A>G),
54786424(c.-3171G>A),
54786525(c.-3070G>A),
54786764(c.-2831A>G),
54786835(c.-2760C>T),
54786869(c.-2726T>C),
54786938(c.-2657T>C),
54786971(c.-2624C>T),
54787016(c.-2579A>G),
54787083(c.-2512T>A),
54787109(c.-2486C>T),
54787126(c.-2469T>G),
54787504(c.-2091A>T),
54787637(c.-1958C>T),
54787650(c.-1945C>T),
54787814(c.-1781G>C),
54788010(c.-1585T>C),
54788291(c.-1304A>G),
54788320(c.-1275A>G),
54788542(c.-1053A>G),
54788753(c.-842C>A),
54788754(c.-841T>G),
54788865(c.-730C>T),
54788960(c.-635A>G),
54788990(c.-605G>C),
5'UTR
CDS
3'UTR
INTRON
54789760(c.87+79C>T),
54789812(c.87+131C>T),
54790004(c.87+323A>G),
54790051(c.87+370C>T),
54790369(c.87+688C>T),
54790400(c.87+719G>T),
54790540(c.87+859T>G),
54790542(c.87+861G>A),
54790546(c.87+865A>G),
54790588(c.87+907G>A),
54790639(c.87+958C>G),
54790677(c.87+996C>T),
54790710(c.87+1029T>C),
54790719(c.87+1038C>A),
54790739(c.87+1058A>G),
54790824(c.87+1143G>A),
54790831(c.87+1150A>G),
54790992(c.87+1311G>T),
54791033(c.87+1352T>C),
54791069(c.87+1388G>A),
54791080(c.87+1399G>A),
54791305(c.87+1624A>C),
54791426(c.87+1745A>G),
54791500(c.88-1695T>C),
54791584(c.88-1611T>C),
54791648(c.88-1547G>A),
54791738(c.88-1457C>T),
54791756(c.88-1439C>T),
54791784(c.88-1411G>C),
54791826(c.88-1369C>G),
54791856(c.88-1339G>A),
54791946(c.88-1249A>G),
54791948(c.88-1247A>G),
54791949(c.88-1246C>T),
54791987(c.88-1208C>T),
54792074(c.88-1121C>T),
54792477(c.88-718T>C),
54792529(c.88-666T>C),
54792537(c.88-658C>T),
54792830(c.88-365T>C),
54793022(c.88-173G>A),
54793051(c.88-144G>A),
54793078(c.88-117A>G),
54793085(c.88-110G>A),
54793100(c.88-95G>T),
54793101(c.88-94A>T),
54793107(c.88-88A>G),
54793372(c.258+7G>A),
54793384(c.258+19C>T),
54793424(c.258+59C>G),
54793498(c.258+133A>G),
54793509(c.258+144G>A),
54793557(c.258+192G>A),
54793803(c.258+438C>A),
54793886(c.258+521C>T),
54793891(c.258+526A>G),
54793897(c.258+532C>T),
54793933(c.258+568T>C),
54794342(c.259-711A>T),
54794343(c.259-710A>C),
54794381(c.259-672A>G),
54794421(c.259-632G>A),
54794505(c.259-548A>G),
54794522(c.259-531A>T),
54794524(c.259-529A>G),
54794575(c.259-478T>C),
54794777(c.259-276A>G),
54794995(c.259-58G>A),
54795028(c.259-25C>A),
54795046(c.259-7C>A),
54795314(c.385-97G>A),
54795356(c.385-55G>A),
54795366(c.385-45G>A),
54795368(c.385-43T>G),
54795394(c.385-17A>G),
54795619(c.432+161G>A),
54795829(c.433-137C>A),
+1kb
54796320(c.*133C>T),
54796883(c.*696T>C),
54796920(c.*733A>G),
54797581(c.*1394A>C),
54797669(c.*1482A>G),
54797670(c.*1483A>G),
54797796(c.*1609G>A),
54797833(c.*1646T>C),
54797852(c.*1665A>G),
54797876(c.*1689C>T),
54797877(c.*1690T>G),
54797879(c.*1692G>A),
54797905(c.*1718C>T),
54797913(c.*1726G>A),
54797917(c.*1730G>A),
54798139(c.*1952C>A),
54798168(c.*1981T>C),
54798228(c.*2041G>A),
54798238(c.*2051C>T),
54798321(c.*2134G>A),
54798510(c.*2323A>G),
54798588(c.*2401A>G),
54798642(c.*2455A>G),
54798684(c.*2497T>C),
54798702(c.*2515C>T),
54799299(c.*3112A>C),
54799788(c.*3601A>G),
54799961(c.*3774A>G),
54799994(c.*3807A>G),
54800002(c.*3815C>T),
54800023(c.*3836C>T),
54800040(c.*3853C>T),
54800089(c.*3902G>C),
54800169(c.*3982G>A),
54800193(c.*4006G>A),
54800199(c.*4012C>T),
54800211(c.*4024A>G),
54800265(c.*4078C>T),
54800831(c.*4644G>A),
54801048(c.*4861C>A),
54801050(c.*4863T>C),
54801061(c.*4874T>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 | 0 |
| synonymous substitutions |
54793365 (p.Tyr86Tyr),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000163796)
|
MPGKHQQFQDPEVGCCGKYFLFGFNIVFWFSVFLGLIFFLELAAGILAFVFKDWIRDQLN
LFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARGPNDWNLNIYFNCTDLNPSRERCGVPF
SCCVRDPAEDVLNTQCGYDIRLKLELEQQGSIYTKGCVGQFEKWLQDNLIVVAGVLVGIA
LLQIFGLCLAQNL
|
|
MSMv4 transcript
|
MPGKHQQFQDPEVGCCGKYFLFGFNIVFWFSVFLGLIFFLELAAGILAFVFKDWIRDQLN
LFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARGPNDWNLNIYFNCTDLNPSRERCGVPF
SCCVRDPAEDVLNTQCGYDIRLKLELEQQGSIYTKGCVGQFEKWLQDNLIVVAGVLVGIA
LLQIFGLCLAQNL
|
| homology | 100.00 (193 / 193) |
|