Reports |
substitution |
cSNPs | 2 |
Insertion | 5 |
Deletion | 11 |
SNPs |
+1kb
55528856(c.-342A>G),
55528872(c.-358G>T),
55528899(c.-385C>T),
55528911(c.-397G>T),
55529013(c.-499T>C),
55529698(c.-1184A>G),
55529986(c.-1472G>A),
55530191(c.-1677T>C),
55530297(c.-1783T>C),
55530399(c.-1885C>T),
55530826(c.-2312A>C),
55530916(c.-2402T>C),
55531060(c.-2546T>C),
55531085(c.-2571G>C),
55531086(c.-2572G>A),
55531096(c.-2582T>C),
55531157(c.-2643G>C),
55531160(c.-2646A>G),
55531168(c.-2654T>C),
55531476(c.-2962G>A),
55531520(c.-3006T>G),
55531617(c.-3103A>G),
55532194(c.-3680T>C),
55532250(c.-3736C>T),
55532707(c.-4193T>C),
55532863(c.-4349T>C),
55533413(c.-4899T>G),
55533500(c.-4986C>T),
5'UTR
CDS
3'UTR
INTRON
55524600(c.373-20G>A),
55524803(c.373-223G>A),
55524812(c.373-232A>G),
55524855(c.373-275G>A),
55524922(c.373-342A>T),
55524923(c.373-343G>T),
55525023(c.373-443G>A),
55525110(c.373-530A>G),
55525230(c.373-650A>G),
55525231(c.373-651C>T),
55525470(c.373-890G>A),
55525471(c.373-891T>C),
55525586(c.373-1006G>A),
55525592(c.373-1012C>G),
55525728(c.373-1148C>T),
55525747(c.373-1167C>T),
55525803(c.373-1223G>A),
55525805(c.373-1225G>A),
55525979(c.372+1353G>T),
55526396(c.372+936A>C),
55526397(c.372+935A>C),
55526403(c.372+929A>C),
55526428(c.372+904G>A),
55526434(c.372+898C>T),
55526533(c.372+799A>G),
55526541(c.372+791G>A),
55526545(c.372+787A>G),
55526633(c.372+699A>G),
55526743(c.372+589T>C),
55526848(c.372+484A>G),
55527644(c.67-7C>T),
55527680(c.67-43A>G),
55527740(c.67-103C>T),
55527785(c.67-148T>C),
55528173(c.66+276A>G),
55528269(c.66+180T>C),
-1kb
55518934(c.*4488T>C),
55519245(c.*4177C>T),
55519248(c.*4174A>G),
55519252(c.*4170A>G),
55519255(c.*4167T>C),
55519938(c.*3484T>C),
55519958(c.*3464C>G),
55520029(c.*3393C>G),
55520264(c.*3158T>A),
55520444(c.*2978G>A),
55520562(c.*2860T>A),
55520657(c.*2765C>T),
55520777(c.*2645C>A),
55520806(c.*2616G>C),
55520808(c.*2614A>G),
55520822(c.*2600G>A),
55521021(c.*2401G>A),
55521062(c.*2360G>A),
55521084(c.*2338T>C),
55521253(c.*2169C>T),
55521258(c.*2164T>C),
55521585(c.*1837A>G),
55522029(c.*1393G>T),
55522471(c.*951C>A),
|
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 | 0 |
synonymous substitutions |
55523737 (p.Glu340Glu),
55528494 (p.Pro7Pro),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000047877)
|
MESVEPPVKDGILYQQHVKFGKKCWRKVWALLYAGGPSGVARLESWDVRDGGLGPAGDRS
TGPSRRGERRVIRLADCVSVLPADGESCPRDTGAFLITTTERSHLLAAQHRQSWVDPICQ
LAFPGTGECSSGSGQAESPKRGFVPMEENSIYSSWQEVTEFPVIVQRTEATSRCQLKGPY
LLVLGQDDIQLRETSKPQACFSWPYRFLRKYGSDKGVFSFEAGRRCDSGEGLFAFSSPRA
PDICGVVAAAIARQRERLPELAMSPPCPLPRALSLPSLEPPGELREVAPGFELPTPRKLP
LTDPGPQSLPLLLSPTQEGPASGLYASVCKQTSKHTGTAEHLYENVCMLEASPGLTNGGP
EAQEGPPGGRSPLGSPIYHNTEDLSWPGSAQDSNLEAQYRRLLELELDEAGSAGRSGAQA
GIKAKLVTLLTRERKKGPAPCDRP*
|
MSMv4 transcript
|
MESVEPPVKDGILYQQHVKFGKKCWRKVWALLYAGGPSGVARLESWDVRDGGLGPAGDRS
TGPSRRGERRVIRLADCVSVLPADGESCPRDTGAFLITTTERSHLLAAQHRQSWVDPICQ
LAFPGTGECSSGSGQAESPKRGFVPMEENSIYSSWQEVTEFPVIVQRTEATSRCQLKGPY
LLVLGQDDIQLRETSKPQACFSWPYRFLRKYGSDKGVFSFEAGRRCDSGEGLFAFSSPRA
PDICGVVAAAIARQRERLPELAMSPPCPLPRALSLPSLEPPGELREVAPGFELPTPRKLP
LTDPGPQSLPLLLSPTQEGPASGLYASVCKQTSKHTGTAEHLYENVCMLEASPGLTNGGP
EAQEGPPGGRSPLGSPIYHNTEDLSWPGSAQDSNLEAQYRRLLELELDEAGSAGRSGAQA
GIKAKLVTLLTRERKKGPAPCDRP*
|
homology | 100.00 (445 / 445) |
|