| Reports |
|---|
| substitution |
|---|
| cSNPs | 6 |
|---|
| Insertion | 10 |
|---|
| Deletion | 16 |
|---|
| SNPs |
+1kb
55513722(c.-1315T>C),
55513790(c.-1383T>C),
55513791(c.-1384C>T),
55514196(c.-1789C>T),
55514464(c.-2057C>T),
55514476(c.-2069G>A),
55514692(c.-2285C>A),
55514748(c.-2341G>T),
55514821(c.-2414G>A),
55514998(c.-2591C>A),
55515091(c.-2684C>T),
55515206(c.-2799G>A),
55515440(c.-3033G>A),
55515731(c.-3324C>T),
55515910(c.-3503G>A),
55516075(c.-3668G>A),
55516097(c.-3690C>A),
55517176(c.-4769A>G),
55517425(c.-5018G>C),
55517440(c.-5033G>C),
55517595(c.-5188T>C),
55517661(c.-5254G>C),
55517771(c.-5364A>G),
55517964(c.-5557A>C),
55518014(c.-5607C>A),
55518099(c.-5692A>T),
55518108(c.-5701C>T),
55518137(c.-5730C>T),
55518218(c.-5811T>C),
- 5'UTR
- CDS
- 3'UTR
- INTRON
55508374(c.280-48T>C),
55508831(c.249-21T>C),
55509053(c.97-10T>C),
55509077(c.97-34G>T),
55509250(c.97-207A>T),
55509368(c.97-325C>T),
55509915(c.97-872G>C),
55509962(c.97-919A>T),
55509966(c.97-923A>G),
55510002(c.97-959C>T),
55510012(c.97-969T>C),
55510058(c.97-1015C>T),
55510171(c.97-1128C>A),
55510297(c.97-1254G>C),
55510300(c.97-1257C>A),
55510338(c.97-1295C>T),
55510391(c.97-1348G>C),
55510417(c.97-1374T>G),
55510633(c.97-1590G>A),
55510937(c.96+1375G>A),
55510946(c.96+1366T>C),
55510970(c.96+1342C>G),
55510993(c.96+1319C>G),
55511248(c.96+1064A>T),
55511502(c.96+810C>A),
55511534(c.96+778T>C),
55511606(c.96+706G>T),
55511655(c.96+657A>G),
55511673(c.96+639A>G),
55511929(c.96+383C>T),
55512015(c.96+297A>G),
55512581(c.-11-163G>C),
55512632(c.-11-214G>A),
55513251(c.-12+116T>C),
-
-1kb
55501818(c.*6128A>G),
55501847(c.*6099G>C),
55501848(c.*6098A>G),
55501858(c.*6088A>G),
55501889(c.*6057G>C),
55501932(c.*6014G>A),
55501959(c.*5987T>C),
55502618(c.*5328T>C),
55502684(c.*5262C>T),
55502727(c.*5219T>C),
55503099(c.*4847A>G),
55503110(c.*4836G>A),
55503146(c.*4800A>G),
55503212(c.*4734A>G),
55503233(c.*4713C>T),
55503287(c.*4659G>A),
55503298(c.*4648T>C),
55503301(c.*4645T>G),
55503360(c.*4586T>G),
55503454(c.*4492G>T),
55503522(c.*4424G>A),
55503645(c.*4301G>A),
55503666(c.*4280T>G),
55503901(c.*4045T>A),
55503913(c.*4033T>C),
55503918(c.*4028A>T),
55503928(c.*4018T>C),
55504008(c.*3938C>A),
55504745(c.*3201C>T),
55504906(c.*3040A>C),
55504913(c.*3033C>T),
55505054(c.*2892T>C),
55505139(c.*2807G>T),
55505207(c.*2739G>T),
55505474(c.*2472G>C),
55505540(c.*2406C>G),
55505742(c.*2204C>T),
55506426(c.*1520G>A),
55506442(c.*1504G>A),
55506683(c.*1263T>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 | 4 |
|---|
| synonymous substitutions |
55507952 (p.Pro218Pro),
55509035 (p.Pro35Pro),
|
|---|
| non-synonymous substitutions |
55507968 (p.Ser213Leu),
55507978 (p.Val210Leu),
55507980 (p.Leu209His),
55508154 (p.Ser151Leu),
|
|---|
B6 transcript
(ENSMUST00000131306)
|
MDSFKVVLEGPAPWGFRLQGGKDFNVPLSISRLTPGGKAAQAGVAVGDWVLNIDGENAGS
LTHIEAQNKIRACGERLSLGLSRAQPVQSKPQKALTPPADPPRYTFAPSASLNKTARPFG
APPPTDSTLRQNGYVSPCPSTPTSAHCLVLSQAHTQAACYRSVCAGPQPLNRVAATPGGR
VGLLLFHRLCPAEQPGVSLCCGPAESHKLVATSPPSPPL*
|
|
MSMv4 transcript
|
MDSFKVVLEGPAPWGFRLQGGKDFNVPLSISRLTPGGKAAQAGVAVGDWVLNIDGENAGS
LTHIEAQNKIRACGERLSLGLSRAQPVQSKPQKALTPPADPPRYTFAPSASLNKTARPFG
APPPTDSTLRQNGYVSPCPSTPTSAHCLVLSQAHTQAACYRSVCAGPQPLNRVAATPGGR
VGLLLFHRLCPAEQPGVSLCCGPAESHKLVATLPPSPPL*
|
| homology | 99.55 (220 / 220) |
|---|
|
