| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 8 |
| Deletion | 15 |
| SNPs |
-1kb
51841680(c.-5100G>A),
51841731(c.-5049C>T),
51841775(c.-5005T>A),
51841799(c.-4981A>G),
51841858(c.-4922T>G),
51842098(c.-4682T>C),
51842171(c.-4609C>A),
51842275(c.-4505T>G),
51842386(c.-4394A>G),
51842597(c.-4183C>T),
51842784(c.-3996T>C),
51842859(c.-3921A>G),
51842900(c.-3880T>C),
51843068(c.-3712G>A),
51843097(c.-3683G>A),
51843376(c.-3404C>T),
51843384(c.-3396G>T),
51843475(c.-3305G>T),
51843540(c.-3240G>A),
51843574(c.-3206A>C),
51843649(c.-3131C>T),
51843667(c.-3113T>G),
51844005(c.-2775A>G),
51844118(c.-2662G>A),
51844164(c.-2616C>T),
51844541(c.-2239T>A),
51845442(c.-1338A>C),
51845451(c.-1329A>C),
51845452(c.-1328A>C),
51845512(c.-1268C>G),
51845523(c.-1257T>C),
51845565(c.-1215C>A),
51845591(c.-1189C>A),
51845628(c.-1152G>A),
51845700(c.-1080C>A),
51845753(c.-1027T>C),
51846405(c.-375T>A),
5'UTR
CDS
3'UTR
INTRON
+1kb
51848543(c.*564G>A),
51848746(c.*767T>C),
51849081(c.*1102G>C),
51849200(c.*1221C>T),
51849227(c.*1248A>G),
51849732(c.*1753C>T),
51849784(c.*1805A>G),
51849793(c.*1814G>C),
51850266(c.*2287T>G),
51850442(c.*2463T>A),
51850681(c.*2702T>C),
51850785(c.*2806T>C),
51850828(c.*2849A>G),
51850966(c.*2987C>G),
51850971(c.*2992A>G),
51850974(c.*2995G>T),
51850975(c.*2996G>A),
51851261(c.*3282A>G),
51851273(c.*3294T>C),
51851387(c.*3408G>C),
51851520(c.*3541T>C),
51851528(c.*3549A>G),
51851530(c.*3551G>A),
51851632(c.*3653A>C),
51851778(c.*3799A>G),
51851816(c.*3837G>T),
51851963(c.*3984A>G),
51851966(c.*3987C>T),
51852050(c.*4071C>A),
51852163(c.*4184A>G),
51852246(c.*4267G>A),
51852617(c.*4638T>C),
51852625(c.*4646T>C),
51852629(c.*4650C>T),
51852673(c.*4694A>T),
51852696(c.*4717G>A),
51852904(c.*4925T>C),
51852913(c.*4934T>C),
51852946(c.*4967A>G),
51853044(c.*5065C>T),
51853115(c.*5136G>A),
51853264(c.*5285C>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
51849361 (c.*1383_*1386delGGGG),
51849530 (c.*1552_*1558delAAAAAAC),
51851046 (c.*3068delA),
51851749 (c.*3771_*3773delTTT),
51851853 (c.*3875_*3883delAGAAGATAC),
51852177 (c.*4199delT),
51852278 (c.*4300_*4301delGG),
51852284 (c.*4306_*4307delGG),
51852685 (c.*4707delG),
51852690 (c.*4712delG),
51853120 (c.*5142_*5143delTC),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 1 |
| synonymous substitutions |
51847712 (p.Ile104Ile),
|
| non-synonymous substitutions |
51847719 (p.Ala107Ser),
|
B6 transcript
(ENSMUST00000021903)
|
MTLEEVRGQDTVPESTARMQGAGKALHELLLSAQRQGCLTAGVYESAKVLNVDPDNVTFC
VLAADEEDEGDIALQIHFTLIQAFCCENDIDIVRVGDVQRLAAIVGADEEGGAPGDLHCI
LISNPNEDTWKDPALEKLSLFCEESRSFNDWVPSITLPE*
|
|
MSMv4 transcript
|
MTLEEVRGQDTVPESTARMQGAGKALHELLLSAQRQGCLTAGVYESAKVLNVDPDNVTFC
VLAADEEDEGDIALQIHFTLIQAFCCENDIDIVRVGDVQRLAAIVGSDEEGGAPGDLHCI
LISNPNEDTWKDPALEKLSLFCEESRSFNDWVPSITLPE*
|
| homology | 99.38 (160 / 160) |
|