Reports |
substitution |
cSNPs | 9 |
Insertion | 8 |
Deletion | 17 |
SNPs |
-1kb
136131292(c.-4886T>C),
136131413(c.-4765C>T),
136131666(c.-4512T>A),
136131667(c.-4511A>T),
136131728(c.-4450G>A),
136131881(c.-4297A>G),
136132015(c.-4163T>C),
136132104(c.-4074A>G),
136132255(c.-3923C>G),
136132289(c.-3889T>C),
136132298(c.-3880G>A),
136132544(c.-3634G>A),
136132587(c.-3591G>A),
136132823(c.-3355T>A),
136132945(c.-3233T>C),
136132956(c.-3222T>C),
136133024(c.-3154G>T),
136133107(c.-3071A>G),
136133214(c.-2964C>T),
136133300(c.-2878T>C),
136133383(c.-2795C>T),
136133408(c.-2770C>T),
136133461(c.-2717C>G),
136133494(c.-2684G>T),
136133581(c.-2597G>T),
136133612(c.-2566A>G),
136133801(c.-2377A>C),
136133874(c.-2304G>A),
136133879(c.-2299A>C),
136134238(c.-1940C>G),
136134397(c.-1781C>T),
136134410(c.-1768A>G),
136134492(c.-1686C>T),
136134541(c.-1637T>C),
136134544(c.-1634G>A),
136134568(c.-1610C>T),
136134768(c.-1410A>G),
136134870(c.-1308T>C),
136134894(c.-1284G>A),
136134951(c.-1227A>G),
136135170(c.-1008G>A),
136135217(c.-961T>G),
136135666(c.-512A>G),
136135925(c.-253G>A),
136136076(c.-102T>C),
136136141(c.-37G>A),
5'UTR
CDS
3'UTR
INTRON
136136401(c.117+107T>G),
136136491(c.117+197A>G),
136136498(c.117+204T>C),
136136543(c.117+249C>T),
136136572(c.117+278A>C),
136136957(c.117+663A>T),
136137047(c.117+753G>A),
136137391(c.117+1097C>T),
136137480(c.117+1186C>T),
136137509(c.117+1215T>C),
136137554(c.117+1260G>A),
136137978(c.118-1360G>A),
136138766(c.118-572T>A),
136138911(c.118-427G>A),
136139054(c.118-284C>T),
136139081(c.118-257A>G),
136139171(c.118-167C>T),
136139809(c.315+274T>C),
+1kb
136141646(c.*880A>G),
136141765(c.*999C>T),
136142305(c.*1539C>T),
136142340(c.*1574G>T),
136142347(c.*1581T>C),
136142749(c.*1983T>C),
136142751(c.*1985G>A),
136142758(c.*1992A>G),
136142912(c.*2146A>G),
136143198(c.*2432A>G),
136143346(c.*2580G>A),
136143382(c.*2616C>G),
136143385(c.*2619A>G),
136143509(c.*2743A>T),
136143615(c.*2849C>T),
136143797(c.*3031A>C),
136143803(c.*3037T>C),
136143833(c.*3067T>C),
136143854(c.*3088C>T),
136143999(c.*3233A>G),
136144002(c.*3236G>A),
136144010(c.*3244A>C),
136144034(c.*3268C>T),
136144201(c.*3435A>G),
136144307(c.*3541A>T),
136144361(c.*3595C>T),
136144413(c.*3647A>G),
136144453(c.*3687T>G),
136144470(c.*3704G>A),
136144550(c.*3784C>T),
136144593(c.*3827T>C),
136144598(c.*3832C>T),
136144687(c.*3921T>G),
136144985(c.*4219G>A),
136145009(c.*4243T>C),
136145111(c.*4345C>G),
136145349(c.*4583C>T),
136145446(c.*4680C>G),
136145469(c.*4703C>A),
136145598(c.*4832A>G),
136145857(c.*5091G>A),
136146036(c.*5270G>A),
136146043(c.*5277C>T),
136146045(c.*5279C>G),
136146288(c.*5522G>A),
136146289(c.*5523T>C),
136146304(c.*5538G>C),
136146333(c.*5567A>G),
136146351(c.*5585C>T),
136146394(c.*5628C>G),
136146502(c.*5736T>C),
136146580(c.*5814A>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 | 7 |
non-synonymous num | 2 |
synonymous substitutions |
136140238 (p.Gly125Gly),
136140358 (p.Asp165Asp),
136140541 (p.Gln226Gln),
136140562 (p.Thr233Thr),
136140578 (p.Leu239Leu),
136140586 (p.Val241Val),
136140676 (p.Leu271Leu),
|
non-synonymous substitutions |
136136209 (p.Gln11Pro),
136140561 (p.Thr233Ile),
|
B6 transcript
(ENSMUST00000041100)
|
MAAAAEVSLLQECGCKGIRTCLICERQRHRDPPWQICLQKKCCFLYCPDTGWAAGAEGSD
LEGWAFPFPGVTLIQDFVTPEEEAEMVRLMDCDPWKLSQSGRKKQDYGPKVNFRKQKLKM
AGFQGLPGFSQKVVQRMGLYPGLEDFQPVEQCNLDYSPERGSAIDPHLDDAWLWGERLVS
LNLLSATVVSMSPEAPGSLLLCSAPSVRPDAFEDSLVAPSRSVPCQEVEVAITVPRRSLL
VLTGAARHQWTHAIHRRHIKARRVCATFRELSSEFLPGGKQQELGQELLQAALSFQGRPV
*
|
MSMv4 transcript
|
MAAAAEVSLLPECGCKGIRTCLICERQRHRDPPWQICLQKKCCFLYCPDTGWAAGAEGSD
LEGWAFPFPGVTLIQDFVTPEEEAEMVRLMDCDPWKLSQSGRKKQDYGPKVNFRKQKLKM
AGFQGLPGFSQKVVQRMGLYPGLEDFQPVEQCNLDYSPERGSAIDPHLDDAWLWGERLVS
LNLLSATVVSMSPEAPGSLLLCSAPSVRPDAFEDSLVAPSRSVPCQEVEVAIMVPRRSLL
VLTGAARHQWTHAIHRRHIKARRVCATFRELSSEFLPGGKQQELGQELLQAALSFQGRPV
*
|
homology | 99.34 (301 / 301) |
|