| Reports |
| substitution |
| cSNPs | 2 |
| 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.88-1304A>C),
54791426(c.88-1183A>G),
54791500(c.88-1109T>C),
54791584(c.88-1025T>C),
54791648(c.88-961G>A),
54791738(c.88-871C>T),
54791756(c.88-853C>T),
54791784(c.88-825G>C),
54791826(c.88-783C>G),
54791856(c.88-753G>A),
54791946(c.88-663A>G),
54791948(c.88-661A>G),
54791949(c.88-660C>T),
54791987(c.88-622C>T),
54792074(c.88-535C>T),
54792477(c.88-132T>C),
54792529(c.88-80T>C),
54792537(c.88-72C>T),
54793022(c.285+136G>A),
54793051(c.286-144G>A),
54793078(c.286-117A>G),
54793085(c.286-110G>A),
54793100(c.286-95G>T),
54793101(c.286-94A>T),
54793107(c.286-88A>G),
54793372(c.456+7G>A),
54793384(c.456+19C>T),
54793424(c.456+59C>G),
54793498(c.456+133A>G),
54793509(c.456+144G>A),
54793557(c.456+192G>A),
54793803(c.456+438C>A),
54793886(c.456+521C>T),
54793891(c.456+526A>G),
54793897(c.456+532C>T),
54793933(c.456+568T>C),
54794342(c.457-711A>T),
54794343(c.457-710A>C),
54794381(c.457-672A>G),
54794421(c.457-632G>A),
54794505(c.457-548A>G),
54794522(c.457-531A>T),
54794524(c.457-529A>G),
54794575(c.457-478T>C),
54794777(c.457-276A>G),
54794995(c.457-58G>A),
54795028(c.457-25C>A),
54795046(c.457-7C>A),
54795314(c.583-97G>A),
54795356(c.583-55G>A),
54795366(c.583-45G>A),
54795368(c.583-43T>G),
54795394(c.583-17A>G),
54795619(c.639+152G>A),
54795829(c.640-137C>A),
+1kb
54796320(c.*98C>T),
54796883(c.*661T>C),
54796920(c.*698A>G),
54797581(c.*1359A>C),
54797669(c.*1447A>G),
54797670(c.*1448A>G),
54797796(c.*1574G>A),
54797833(c.*1611T>C),
54797852(c.*1630A>G),
54797876(c.*1654C>T),
54797877(c.*1655T>G),
54797879(c.*1657G>A),
54797905(c.*1683C>T),
54797913(c.*1691G>A),
54797917(c.*1695G>A),
54798139(c.*1917C>A),
54798168(c.*1946T>C),
54798228(c.*2006G>A),
54798238(c.*2016C>T),
54798321(c.*2099G>A),
54798510(c.*2288A>G),
54798588(c.*2366A>G),
54798642(c.*2420A>G),
54798684(c.*2462T>C),
54798702(c.*2480C>T),
54799299(c.*3077A>C),
54799788(c.*3566A>G),
54799961(c.*3739A>G),
54799994(c.*3772A>G),
54800002(c.*3780C>T),
54800023(c.*3801C>T),
54800040(c.*3818C>T),
54800089(c.*3867G>C),
54800169(c.*3947G>A),
54800193(c.*3971G>A),
54800199(c.*3977C>T),
54800211(c.*3989A>G),
54800265(c.*4043C>T),
54800831(c.*4609G>A),
54801048(c.*4826C>A),
54801050(c.*4828T>C),
54801061(c.*4839T>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 | 2 |
| non-synonymous num | 0 |
| synonymous substitutions |
54792830 (p.Leu77Leu),
54793365 (p.Tyr152Tyr),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000099503)
|
MPGKHQQFQDPEVGCCGKYFLFGFNIVFWVLGALFLAIGLWAWGEKGVLSNISALTDLGG
LDPVWLFVVVGGVMSVLGFAGCIGALRENTFLLKFFSVFLGLIFFLELAAGILAFVFKDW
IRDQLNLFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARGPNDWNLNIYFNCTDLNPSRE
RCGVPFSCCVRDPAEDVLNTQCGYDIRLKLVRRELEQQGSIYTKGCVGQFEKWLQDNLIV
VAGVLVGIALLQIFGLCLAQNLVSDIKAVKANW*
|
|
MSMv4 transcript
|
MPGKHQQFQDPEVGCCGKYFLFGFNIVFWVLGALFLAIGLWAWGEKGVLSNISALTDLGG
LDPVWLFVVVGGVMSVLGFAGCIGALRENTFLLKFFSVFLGLIFFLELAAGILAFVFKDW
IRDQLNLFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARGPNDWNLNIYFNCTDLNPSRE
RCGVPFSCCVRDPAEDVLNTQCGYDIRLKLVRRELEQQGSIYTKGCVGQFEKWLQDNLIV
VAGVLVGIALLQIFGLCLAQNLVSDIKAVKANW*
|
| homology | 100.00 (274 / 274) |
|