| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 3 |
| Deletion | 14 |
| SNPs |
-1kb
54784761(c.-4885G>A),
54784787(c.-4859G>A),
54784863(c.-4783G>A),
54784928(c.-4718G>T),
54785096(c.-4550C>T),
54785193(c.-4453G>A),
54785458(c.-4188G>A),
54785672(c.-3974C>T),
54785766(c.-3880T>C),
54785896(c.-3750G>T),
54786164(c.-3482T>C),
54786368(c.-3278G>T),
54786378(c.-3268T>C),
54786416(c.-3230A>G),
54786424(c.-3222G>A),
54786525(c.-3121G>A),
54786764(c.-2882A>G),
54786835(c.-2811C>T),
54786869(c.-2777T>C),
54786938(c.-2708T>C),
54786971(c.-2675C>T),
54787016(c.-2630A>G),
54787083(c.-2563T>A),
54787109(c.-2537C>T),
54787126(c.-2520T>G),
54787504(c.-2142A>T),
54787637(c.-2009C>T),
54787650(c.-1996C>T),
54787814(c.-1832G>C),
54788010(c.-1636T>C),
54788291(c.-1355A>G),
54788320(c.-1326A>G),
54788542(c.-1104A>G),
54788753(c.-893C>A),
54788754(c.-892T>G),
54788865(c.-781C>T),
54788960(c.-686A>G),
54788990(c.-656G>C),
5'UTR
CDS
3'UTR
INTRON
54789760(c.36+79C>T),
54789812(c.36+131C>T),
54790004(c.36+323A>G),
54790051(c.36+370C>T),
54790369(c.36+688C>T),
54790400(c.36+719G>T),
54790540(c.36+859T>G),
54790542(c.36+861G>A),
54790546(c.36+865A>G),
54790588(c.36+907G>A),
54790639(c.36+958C>G),
54790677(c.36+996C>T),
54790710(c.36+1029T>C),
54790719(c.36+1038C>A),
54790739(c.36+1058A>G),
54790824(c.36+1143G>A),
54790831(c.36+1150A>G),
54790992(c.36+1311G>T),
54791033(c.36+1352T>C),
54791069(c.36+1388G>A),
54791080(c.36+1399G>A),
54791305(c.37-1304A>C),
54791426(c.37-1183A>G),
54791500(c.37-1109T>C),
54791584(c.37-1025T>C),
54791648(c.37-961G>A),
54791738(c.37-871C>T),
54791756(c.37-853C>T),
54791784(c.37-825G>C),
54791826(c.37-783C>G),
54791856(c.37-753G>A),
54791946(c.37-663A>G),
54791948(c.37-661A>G),
54791949(c.37-660C>T),
54791987(c.37-622C>T),
54792074(c.37-535C>T),
54792477(c.37-132T>C),
54792529(c.37-80T>C),
54792537(c.37-72C>T),
54793022(c.234+136G>A),
54793051(c.234+165G>A),
54793078(c.235-186A>G),
54793085(c.235-179G>A),
54793100(c.235-164G>T),
54793101(c.235-163A>T),
54793107(c.235-157A>G),
54793372(c.336+7G>A),
54793384(c.336+19C>T),
54793424(c.336+59C>G),
54793498(c.336+133A>G),
54793509(c.336+144G>A),
54793557(c.336+192G>A),
54793803(c.336+438C>A),
54793886(c.336+521C>T),
54793891(c.336+526A>G),
54793897(c.336+532C>T),
54793933(c.336+568T>C),
54794342(c.337-711A>T),
54794343(c.337-710A>C),
54794381(c.337-672A>G),
54794421(c.337-632G>A),
54794505(c.337-548A>G),
54794522(c.337-531A>T),
54794524(c.337-529A>G),
54794575(c.337-478T>C),
54794777(c.337-276A>G),
54794995(c.337-58G>A),
54795028(c.337-25C>A),
54795046(c.337-7C>A),
+1kb
54795314(c.*166G>A),
54795356(c.*208G>A),
54795366(c.*218G>A),
54795368(c.*220T>G),
54795394(c.*246A>G),
54795619(c.*471G>A),
54795829(c.*681C>A),
54796320(c.*1172C>T),
54796883(c.*1735T>C),
54796920(c.*1772A>G),
54797581(c.*2433A>C),
54797669(c.*2521A>G),
54797670(c.*2522A>G),
54797796(c.*2648G>A),
54797833(c.*2685T>C),
54797852(c.*2704A>G),
54797876(c.*2728C>T),
54797877(c.*2729T>G),
54797879(c.*2731G>A),
54797905(c.*2757C>T),
54797913(c.*2765G>A),
54797917(c.*2769G>A),
54798139(c.*2991C>A),
54798168(c.*3020T>C),
54798228(c.*3080G>A),
54798238(c.*3090C>T),
54798321(c.*3173G>A),
54798510(c.*3362A>G),
54798588(c.*3440A>G),
54798642(c.*3494A>G),
54798684(c.*3536T>C),
54798702(c.*3554C>T),
54799299(c.*4151A>C),
54799788(c.*4640A>G),
54799961(c.*4813A>G),
54799994(c.*4846A>G),
54800002(c.*4854C>T),
54800023(c.*4875C>T),
54800040(c.*4892C>T),
54800089(c.*4941G>C),
|
| 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.Leu60Leu),
54793365 (p.Tyr112Tyr),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000171859)
|
KYFLFGFNIVFWVLGALFLAIGLWAWGEKGVLSNISALTDLGGLDPVWLFVVVGGVMSVL
GFAGCIGALRENTFLLKFDWIRDQLNLFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARG
PNDWNLNIYFNCTDLNPSRERCGV
|
|
MSMv4 transcript
|
KYFLFGFNIVFWVLGALFLAIGLWAWGEKGVLSNISALTDLGGLDPVWLFVVVGGVMSVL
GFAGCIGALRENTFLLKFDWIRDQLNLFINNNVKAYRDDLDLQNLIDFAQEYWSCCGARG
PNDWNLNIYFNCTDLNPSRERCGV
|
| homology | 100.00 (144 / 144) |
|