Reports |
substitution |
cSNPs | 3 |
Insertion | 9 |
Deletion | 14 |
SNPs |
-1kb
95327984(c.-5439C>T),
95328086(c.-5337A>G),
95328135(c.-5288G>A),
95328176(c.-5247A>G),
95328251(c.-5172A>G),
95328539(c.-4884A>G),
95328563(c.-4860A>G),
95328794(c.-4629A>G),
95328836(c.-4587G>A),
95328995(c.-4428A>G),
95329010(c.-4413A>G),
95329052(c.-4371C>T),
95329337(c.-4086C>G),
95329472(c.-3951G>A),
95329517(c.-3906C>T),
95329667(c.-3756T>A),
95330008(c.-3415T>C),
95330053(c.-3370C>T),
95331346(c.-2077T>C),
95331395(c.-2028G>A),
95331465(c.-1958G>A),
95331998(c.-1425T>G),
95332341(c.-1082A>C),
95332593(c.-830A>C),
5'UTR
CDS
3'UTR
INTRON
95333355(c.-55-13T>G),
95333615(c.112+81C>G),
95333639(c.112+105T>C),
95333640(c.112+106G>A),
95333716(c.112+182G>A),
95333986(c.112+452C>T),
95335688(c.112+2154C>T),
95335719(c.112+2185A>G),
95336756(c.113-1878T>C),
95336781(c.113-1853G>A),
95337083(c.113-1551A>G),
95337274(c.113-1360C>T),
95337418(c.113-1216T>C),
95337546(c.113-1088A>G),
95337553(c.113-1081C>A),
95337643(c.113-991A>C),
95337672(c.113-962A>G),
95337718(c.113-916T>C),
95338027(c.113-607G>A),
95338249(c.113-385T>A),
95338355(c.113-279A>G),
95338362(c.113-272G>A),
95338370(c.113-264A>G),
95338558(c.113-76C>T),
95338604(c.113-30A>G),
95338607(c.113-27C>G),
95338623(c.113-11T>C),
95338834(c.296+17T>C),
95338882(c.296+65C>T),
95338961(c.296+144T>C),
95338965(c.296+148T>C),
95338994(c.296+177G>C),
95339015(c.296+198T>C),
95339049(c.296+232C>T),
95339137(c.296+320G>A),
95339161(c.296+344C>T),
95339192(c.296+375C>T),
95339426(c.296+609C>G),
95339525(c.296+708G>A),
95339567(c.296+750A>C),
95339578(c.296+761A>G),
95339585(c.296+768C>T),
95339590(c.296+773G>A),
95339686(c.296+869C>T),
95339949(c.296+1132C>T),
95340115(c.296+1298C>T),
95340354(c.296+1537C>G),
95340368(c.296+1551A>G),
95340394(c.296+1577A>G),
95340460(c.296+1643G>A),
95340469(c.296+1652G>A),
95340508(c.296+1691G>A),
95340628(c.296+1811A>G),
95340790(c.296+1973G>T),
95340841(c.296+2024G>C),
95340863(c.296+2046C>T),
95340884(c.296+2067T>C),
95340979(c.297-2143C>T),
95341055(c.297-2067T>G),
95341057(c.297-2065C>T),
95341264(c.297-1858G>A),
95341339(c.297-1783A>C),
95341481(c.297-1641A>G),
95341503(c.297-1619G>A),
95341525(c.297-1597T>A),
95341549(c.297-1573C>T),
95341570(c.297-1552A>G),
95341608(c.297-1514A>G),
95341610(c.297-1512T>A),
95341628(c.297-1494G>A),
95341662(c.297-1460T>C),
95341727(c.297-1395C>T),
95341833(c.297-1289G>T),
95341846(c.297-1276A>C),
95341861(c.297-1261A>C),
95341883(c.297-1239C>T),
95341956(c.297-1166G>A),
95341958(c.297-1164T>C),
95342098(c.297-1024T>C),
95342107(c.297-1015C>A),
95342231(c.297-891G>A),
95342275(c.297-847C>T),
95342280(c.297-842T>G),
95342282(c.297-840T>C),
95342283(c.297-839A>G),
95342387(c.297-735G>A),
95342421(c.297-701T>G),
95342495(c.297-627G>C),
95342555(c.297-567T>C),
95342688(c.297-434G>T),
95342691(c.297-431A>G),
95342711(c.297-411C>A),
95342781(c.297-341A>G),
+1kb
95343195(c.*30C>T),
95343300(c.*135T>C),
95343339(c.*174T>C),
95343352(c.*187G>A),
95343362(c.*197C>T),
95343368(c.*203T>C),
95343441(c.*276T>C),
95343507(c.*342G>C),
95343560(c.*395T>C),
95343575(c.*410T>G),
95343579(c.*414C>G),
95343641(c.*476A>G),
95343648(c.*483G>A),
95343714(c.*549G>A),
95343966(c.*801C>T),
95344092(c.*927A>G),
95344101(c.*936A>T),
95344415(c.*1250C>T),
95345063(c.*1898T>C),
95345180(c.*2015T>G),
95345324(c.*2159A>G),
95345393(c.*2228C>A),
95345836(c.*2671T>A),
95345906(c.*2741A>G),
95346143(c.*2978T>C),
95346287(c.*3122G>A),
95346381(c.*3216A>G),
95346607(c.*3442A>G),
95346672(c.*3507G>A),
95346732(c.*3567A>T),
95347266(c.*4101G>T),
95347328(c.*4163A>G),
95347693(c.*4528C>A),
95347728(c.*4563G>T),
95347836(c.*4671G>A),
95347866(c.*4701A>G),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
95334559 (c.112+1037delC),
95335301 (c.112+1773_112+1781delGGGGGGGGG),
95337718 (c.113-915delG),
95338011 (c.113-614delT),
95338530 (c.113-103delA),
95339327 (c.296+511_296+512delCC),
95339343 (c.296+527_296+534delATTTGTTT),
95339838 (c.296+1022_296+1028delTCCATCC),
95341207 (c.297-1913delG),
95341404 (c.297-1717delC),
95341895 (c.297-1226_297-1224delGGT),
95341911 (c.297-1210_297-1209delTA),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 2 |
non-synonymous num | 1 |
synonymous substitutions |
95338701 (p.Pro60Pro),
95338702 (p.Arg61Arg),
|
non-synonymous substitutions |
95338798 (p.Arg93Cys),
|
B6 transcript
(ENSMUST00000126180)
|
MFPSTEEGPEDDSAKHGGRIRTFPHERGNWATHIYIPYEAKEDFRDLLDALLPRAQMFVP
RLVLMEEFHVSLSQSVVLRHHWILPFVQVLKDRMASFQRFFFTANRVKIYTNQ
|
MSMv4 transcript
|
MFPSTEEGPEDDSAKHGGRIRTFPHERGNWATHIYIPYEAKEDFRDLLDALLPRAQMFVP
RLVLMEEFHVSLSQSVVLRHHWILPFVQVLKDCMASFQRFFFTANRVKIYTNQ
|
homology | 99.12 (113 / 113) |
|