| Reports |
|---|
| substitution |
|---|
| cSNPs | 2 |
|---|
| Insertion | 12 |
|---|
| Deletion | 16 |
|---|
| SNPs |
+1kb
49216059(c.-116G>A),
49216388(c.-445C>T),
49216507(c.-564G>T),
49216509(c.-566C>A),
49217252(c.-1309A>G),
49217710(c.-1767G>A),
49217869(c.-1926G>A),
49218063(c.-2120G>A),
49218072(c.-2129C>T),
49218096(c.-2153G>T),
49218099(c.-2156G>A),
49218144(c.-2201C>T),
49218169(c.-2226A>C),
49218183(c.-2240A>C),
49218192(c.-2249A>G),
49218218(c.-2275C>G),
49218223(c.-2280C>T),
49218233(c.-2290A>G),
49218348(c.-2405G>A),
49218362(c.-2419C>A),
49218371(c.-2428C>T),
49218424(c.-2481C>A),
49218518(c.-2575A>T),
49218523(c.-2580G>T),
49218687(c.-2744T>C),
49218808(c.-2865T>C),
49218814(c.-2871T>C),
49218837(c.-2894G>A),
49219049(c.-3106A>G),
49219073(c.-3130G>T),
49219093(c.-3150C>G),
49219132(c.-3189C>T),
49219151(c.-3208T>C),
49219172(c.-3229G>A),
49219209(c.-3266C>T),
49219256(c.-3313T>C),
49219303(c.-3360G>C),
49219325(c.-3382T>C),
49219365(c.-3422T>C),
49219379(c.-3436T>C),
49219401(c.-3458A>G),
49219651(c.-3708G>A),
49219771(c.-3828C>T),
49219795(c.-3852G>C),
49219816(c.-3873A>G),
- 5'UTR
- CDS
- 3'UTR
- INTRON
49203569(c.436+149G>A),
49203577(c.436+141G>A),
49204317(c.305-329G>A),
49204525(c.305-537C>T),
49204707(c.304+485A>G),
49204930(c.304+262T>C),
49205109(c.304+83T>C),
49205546(c.151-201A>G),
49205605(c.151-260G>A),
49205632(c.151-287T>C),
49205784(c.151-439T>C),
49205817(c.151-472C>T),
49205822(c.151-477G>A),
49205926(c.151-581T>C),
49206106(c.151-761G>A),
49206116(c.151-771A>C),
49206121(c.151-776G>T),
49206132(c.151-787T>A),
49206162(c.151-817T>A),
49206167(c.151-822G>A),
49206196(c.151-851C>T),
49206224(c.151-879G>A),
49206252(c.151-907C>A),
49206274(c.151-929C>A),
49206281(c.151-936C>T),
49206291(c.151-946T>C),
49206304(c.151-959A>G),
49206485(c.151-1140C>A),
49206486(c.151-1141A>G),
49206504(c.151-1159C>A),
49206639(c.151-1294T>C),
49206669(c.151-1324C>G),
49206805(c.150+1199G>A),
49206879(c.150+1125T>G),
49206909(c.150+1095C>T),
49206943(c.150+1061T>C),
49206970(c.150+1034C>T),
49206972(c.150+1032G>A),
49207222(c.150+782T>C),
49207681(c.150+323A>G),
49207959(c.150+45G>A),
49207987(c.150+17A>G),
49208376(c.8-230G>A),
49208533(c.8-387A>C),
49208729(c.8-583G>A),
49208959(c.8-813C>T),
49208963(c.8-817G>A),
49209201(c.8-1055T>C),
49209461(c.8-1315T>C),
49209644(c.8-1498A>G),
49209687(c.8-1541C>T),
49209688(c.8-1542T>C),
49209976(c.8-1830G>T),
49210002(c.8-1856C>T),
49210666(c.8-2520G>T),
49210674(c.8-2528G>T),
49211283(c.8-3137A>T),
49211368(c.8-3222C>A),
49211370(c.8-3224A>G),
49211395(c.8-3249T>C),
49211413(c.8-3267C>T),
49211425(c.8-3279C>G),
49211512(c.8-3366A>C),
49211561(c.8-3415A>G),
49211668(c.8-3522A>G),
49211766(c.8-3620G>T),
49211958(c.8-3812A>C),
49212346(c.7+3591A>G),
49212365(c.7+3572T>C),
49212435(c.7+3502A>T),
49212997(c.7+2940G>A),
49213073(c.7+2864G>T),
49213174(c.7+2763T>C),
49213250(c.7+2687T>C),
49213337(c.7+2600T>C),
49213583(c.7+2354G>A),
49213695(c.7+2242C>T),
49214021(c.7+1916G>C),
49214187(c.7+1750C>T),
49214233(c.7+1704T>C),
49214385(c.7+1552C>T),
49214420(c.7+1517G>A),
49214454(c.7+1483G>A),
49214518(c.7+1419T>C),
49214580(c.7+1357T>A),
49214617(c.7+1320G>A),
49215061(c.7+876C>T),
49215104(c.7+833A>G),
49215143(c.7+794G>A),
49215147(c.7+790A>G),
49215173(c.7+764T>C),
49215174(c.7+763A>C),
49215196(c.7+741G>T),
49215242(c.7+695G>A),
49215247(c.7+690A>T),
49215302(c.7+635T>C),
49215344(c.7+593T>G),
49215345(c.7+592C>T),
49215381(c.7+556C>A),
49215392(c.7+545G>A),
49215519(c.7+418C>T),
49215661(c.7+276C>A),
-
-1kb
49197979(c.*5141G>A),
49197980(c.*5140A>G),
49197981(c.*5139A>G),
49198010(c.*5110G>A),
49198022(c.*5098G>A),
49198084(c.*5036C>G),
49198137(c.*4983C>T),
49198169(c.*4951A>G),
49198209(c.*4911A>C),
49198261(c.*4859A>G),
49198262(c.*4858C>T),
49198272(c.*4848A>G),
49198302(c.*4818C>T),
49198472(c.*4648G>T),
49198475(c.*4645A>G),
49198564(c.*4556A>G),
49198576(c.*4544A>C),
49198588(c.*4532T>C),
49198604(c.*4516A>G),
49198904(c.*4216G>A),
49199307(c.*3813G>C),
49199554(c.*3566G>A),
49199717(c.*3403T>C),
49199730(c.*3390G>A),
49199763(c.*3357T>C),
49199920(c.*3200G>A),
49200044(c.*3076G>C),
49200045(c.*3075T>C),
49200323(c.*2797G>A),
49200389(c.*2731A>T),
49200526(c.*2594T>C),
49200602(c.*2518A>G),
49200620(c.*2500G>A),
49200626(c.*2494G>A),
49200629(c.*2491T>C),
49200699(c.*2421C>T),
49200716(c.*2404G>A),
49200825(c.*2295T>A),
49200830(c.*2290T>C),
49200953(c.*2167G>A),
49201211(c.*1909G>A),
49201252(c.*1868G>T),
49201344(c.*1776C>T),
49201562(c.*1558A>G),
49201624(c.*1496T>C),
49201671(c.*1449C>A),
49201674(c.*1446C>T),
49201686(c.*1434A>G),
49201706(c.*1414G>A),
49201735(c.*1385C>T),
49201896(c.*1224A>G),
49202205(c.*915T>C),
49202257(c.*863T>C),
49202509(c.*611C>T),
49202678(c.*442C>T),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
49206216 (c.151-872delA),
49207004 (c.150+993_150+999delCACAACA),
49207396 (c.150+607delT),
49208354 (c.8-209delT),
49209238 (c.8-1093delA),
49209948 (c.8-1803delA),
49210309 (c.8-2164delT),
49211054 (c.8-2912_8-2909delGTGT),
49212902 (c.7+3030_7+3034delCTCAC),
49214493 (c.7+1440_7+1443delAGTG),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 2 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
49203132 (p.Leu180Leu),
49208010 (p.Ala48Ala),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000048946)
|
MTDQTYCDRLVQDTPFLTGQGRLSEQQVDRIILQLNRYYPQILTNKEAEKFRNPKASLRV
RLCDLLSHLQQRGERHCQEFYRALYIHAQPLHSHLPSRYSPQNSDCRELDWGIESRELSD
RGPMSFLAGLGLAAGLALLLYCCPPDPKVLPGTRRVLAFSPVIIDRHVSRYLLAFLADDL
GGL*
|
|
MSMv4 transcript
|
MTDQTYCDRLVQDTPFLTGQGRLSEQQVDRIILQLNRYYPQILTNKEAEKFRNPKASLRV
RLCDLLSHLQQRGERHCQEFYRALYIHAQPLHSHLPSRYSPQNSDCRELDWGIESRELSD
RGPMSFLAGLGLAAGLALLLYCCPPDPKVLPGTRRVLAFSPVIIDRHVSRYLLAFLADDL
GGL*
|
| homology | 100.00 (184 / 184) |
|---|
|
