| Reports |
| substitution |
| cSNPs | 3 |
| Insertion | 6 |
| Deletion | 8 |
| SNPs |
-1kb
40320611(c.-5884G>C),
40320767(c.-5728C>T),
40320783(c.-5712A>T),
40321009(c.-5486T>C),
40321767(c.-4728C>G),
40321784(c.-4711T>C),
40321857(c.-4638T>C),
40322012(c.-4483G>A),
40322056(c.-4439T>C),
40322217(c.-4278G>A),
40322356(c.-4139C>G),
40322403(c.-4092A>C),
40322426(c.-4069G>A),
40322439(c.-4056G>T),
40322573(c.-3922T>C),
40322898(c.-3597A>G),
40323132(c.-3363G>A),
40323293(c.-3202T>C),
40323352(c.-3143A>G),
40323390(c.-3105A>C),
40323392(c.-3103C>T),
40323443(c.-3052C>T),
40323471(c.-3024C>T),
40323485(c.-3010C>T),
40323639(c.-2856C>G),
40323643(c.-2852G>C),
40323667(c.-2828A>G),
40323676(c.-2819C>A),
40323768(c.-2727C>T),
40323797(c.-2698G>T),
40323950(c.-2545C>T),
40323954(c.-2541T>A),
40324090(c.-2405C>T),
40324091(c.-2404A>G),
40324092(c.-2403G>A),
40324154(c.-2341G>A),
40324241(c.-2254T>A),
40324295(c.-2200G>A),
40324458(c.-2037T>A),
40324496(c.-1999T>A),
40324571(c.-1924A>C),
40324642(c.-1853C>T),
40324644(c.-1851C>T),
40324806(c.-1689T>C),
40324936(c.-1559T>A),
40324999(c.-1496C>T),
40325023(c.-1472G>A),
40325148(c.-1347G>T),
40325218(c.-1277A>G),
40325242(c.-1253A>C),
40325284(c.-1211A>G),
40325476(c.-1019A>T),
40325528(c.-967A>G),
40325558(c.-937G>A),
40325582(c.-913G>C),
5'UTR
CDS
3'UTR
INTRON
40325811(c.-7+14G>A),
40325843(c.-7+46G>A),
40325856(c.-7+59A>G),
40325864(c.-7+67T>C),
40326051(c.-7+254T>G),
40326084(c.-7+287C>T),
40326102(c.-7+305A>G),
40326110(c.-7+313A>T),
40326125(c.-7+328C>T),
40326181(c.-6-308G>T),
40326228(c.-6-261C>T),
40326272(c.-6-217C>A),
40326277(c.-6-212A>C),
40326408(c.-6-81A>G),
40326426(c.-6-63C>G),
40326451(c.-6-38C>T),
40326587(c.64+29T>C),
40326665(c.64+107G>A),
40326883(c.64+325C>T),
40326962(c.64+404C>T),
40327104(c.65-268A>G),
40327115(c.65-257A>G),
40327218(c.65-154G>A),
40327790(c.299+184A>G),
40327825(c.299+219A>G),
40327848(c.299+242C>T),
40327879(c.299+273C>T),
40328381(c.300-590G>C),
40328394(c.300-577C>T),
40328422(c.300-549T>C),
40328432(c.300-539C>G),
40328445(c.300-526T>C),
40328522(c.300-449T>C),
40328533(c.300-438A>T),
40328783(c.300-188G>A),
+1kb
40329399(c.*228G>A),
40329602(c.*431A>T),
40329930(c.*759T>G),
40329992(c.*821A>C),
40330048(c.*877T>C),
40330063(c.*892C>T),
40330064(c.*893T>C),
40330157(c.*986T>G),
40330305(c.*1134A>C),
40330394(c.*1223C>G),
40330402(c.*1231C>T),
40330429(c.*1258T>G),
40330491(c.*1320C>A),
40330542(c.*1371C>T),
40330658(c.*1487C>G),
40331354(c.*2183T>G),
40331655(c.*2484A>G),
40332056(c.*2885T>G),
40332064(c.*2893G>T),
40332171(c.*3000C>T),
40332226(c.*3055T>A),
40332233(c.*3062A>T),
40332234(c.*3063A>T),
40332346(c.*3175A>C),
40333272(c.*4101A>G),
40333513(c.*4342T>C),
40333543(c.*4372T>C),
40333546(c.*4375G>T),
40333550(c.*4379G>A),
40333575(c.*4404A>C),
40333598(c.*4427G>T),
40333896(c.*4725T>C),
40333899(c.*4728T>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 | 1 |
| non-synonymous num | 2 |
| synonymous substitutions |
40327448 (p.Pro47Pro),
|
| non-synonymous substitutions |
40326534 (p.Leu14Val),
40327446 (p.Pro47Ser),
|
B6 transcript
(ENSMUST00000193388)
|
MGVTSLLFCGVFFLLLLFVAADTCEDIFMHNVIISEGQPFPFNCTYPPETNGAVNLTWYK
TPSKSPVSNNRHLRVHQDQTWILFLPLTLEDSGIYQCVIRNAHNCYQIAVNLTVLKNHWC
DSSMEGSPVNSPDVYQQILPIGKSGSLNCHLYFPESCALDSIKWYK
|
|
MSMv4 transcript
|
MGVTSLLFCGVFFVLLLFVAADTCEDIFMHNVIISEGQPFPFNCTYSPETNGAVNLTWYK
TPSKSPVSNNRHLRVHQDQTWILFLPLTLEDSGIYQCVIRNAHNCYQIAVNLTVLKNHWC
DSSMEGSPVNSPDVYQQILPIGKSGSLNCHLYFPESCALDSIKWYK
|
| homology | 98.80 (166 / 166) |
|