| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 5 |
| Deletion | 10 |
| SNPs |
-1kb
90608798(c.-4969T>G),
90608867(c.-4900C>T),
90609544(c.-4223T>C),
90609817(c.-3950T>C),
90610312(c.-3455A>C),
90611178(c.-2589T>C),
90611231(c.-2536G>A),
90611805(c.-1962G>C),
90611846(c.-1921A>C),
90611905(c.-1862T>C),
90612097(c.-1670C>T),
90612192(c.-1575C>T),
90612432(c.-1335T>G),
90612718(c.-1049T>A),
90612987(c.-780G>C),
90613221(c.-546C>A),
90613312(c.-455A>T),
90613638(c.-129C>T),
90613688(c.-79G>A),
5'UTR
CDS
3'UTR
INTRON
90614412(c.*51+39C>T),
90614525(c.*51+152G>A),
90614604(c.*51+231C>T),
90614653(c.*51+280G>A),
90614848(c.*51+475C>T),
90614953(c.*51+580G>A),
90615013(c.*51+640G>A),
90615032(c.*51+659C>T),
90615092(c.*51+719G>C),
90615394(c.*51+1021A>G),
90615674(c.*51+1301G>A),
90615739(c.*51+1366A>T),
90616063(c.*51+1690T>C),
90616202(c.*51+1829G>C),
90616541(c.*51+2168A>C),
90616681(c.*51+2308T>C),
90616684(c.*51+2311C>T),
90617396(c.*51+3023A>C),
90617398(c.*51+3025C>A),
90617399(c.*51+3026T>C),
90617402(c.*51+3029A>C),
90617473(c.*51+3100C>T),
90617502(c.*51+3129G>T),
90617542(c.*51+3169A>T),
90617563(c.*51+3190A>G),
90617784(c.*51+3411A>G),
90617854(c.*51+3481A>T),
90617902(c.*51+3529G>A),
90618278(c.*51+3905T>C),
90618357(c.*51+3984A>G),
90618424(c.*51+4051T>C),
90618599(c.*51+4226G>A),
90618901(c.*51+4528G>C),
90619026(c.*51+4653G>A),
90619462(c.*52-4265A>C),
90620254(c.*52-3473G>A),
90620293(c.*52-3434A>G),
90620413(c.*52-3314C>T),
90620467(c.*52-3260C>T),
90621030(c.*52-2697T>C),
90621031(c.*52-2696G>A),
90621182(c.*52-2545C>T),
90621341(c.*52-2386T>C),
90621360(c.*52-2367C>T),
90621392(c.*52-2335T>G),
90621442(c.*52-2285C>A),
90621452(c.*52-2275C>A),
90621515(c.*52-2212T>G),
90621669(c.*52-2058T>C),
90621674(c.*52-2053T>C),
90621745(c.*52-1982T>C),
90621795(c.*52-1932C>T),
90621874(c.*52-1853T>G),
90621998(c.*52-1729A>G),
90622019(c.*52-1708A>G),
90622059(c.*52-1668A>G),
90622075(c.*52-1652T>C),
90622157(c.*52-1570G>A),
90622232(c.*52-1495T>A),
90622325(c.*52-1402A>T),
90622337(c.*52-1390A>G),
90622387(c.*52-1340G>A),
90622509(c.*52-1218T>G),
90622576(c.*52-1151G>A),
90622745(c.*52-982C>T),
90622761(c.*52-966C>G),
90622795(c.*52-932A>G),
90622800(c.*52-927A>G),
90622818(c.*52-909A>G),
90623151(c.*52-576G>A),
90623376(c.*52-351C>T),
90623702(c.*52-25C>T),
90623703(c.*52-24A>G),
+1kb
90624386(c.*10064A>G),
90625368(c.*11046T>C),
90625404(c.*11082C>T),
90625723(c.*11401A>G),
90625971(c.*11649G>A),
90626254(c.*11932G>T),
90626303(c.*11981G>A),
90626726(c.*12404C>T),
90626729(c.*12407T>C),
90626775(c.*12453G>T),
90627054(c.*12732T>G),
90627352(c.*13030C>T),
90627375(c.*13053C>A),
90627403(c.*13081A>G),
90627565(c.*13243C>T),
90627579(c.*13257C>T),
90627590(c.*13268C>T),
90627746(c.*13424G>T),
90627782(c.*13460C>A),
90627795(c.*13473G>A),
90628011(c.*13689C>T),
90628187(c.*13865A>G),
90628206(c.*13884G>C),
90628328(c.*14006G>A),
90628331(c.*14009T>C),
90628342(c.*14020T>C),
90628368(c.*14046C>T),
90628581(c.*14259C>T),
90628606(c.*14284A>G),
90628715(c.*14393G>C),
90628903(c.*14581G>A),
90628965(c.*14643A>G),
90628966(c.*14644C>T),
90628972(c.*14650T>C),
90629088(c.*14766T>C),
90629095(c.*14773A>G),
90629096(c.*14774T>C),
90629106(c.*14784T>C),
90629155(c.*14833G>A),
90629176(c.*14854C>T),
|
| 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 | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
90614286 (p.Gly78Gly),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000200289)
|
MACPLDQAIGLLVAIFHKYSGKEGDKHTLSKKELKELIQKELTIGSKLQDAEIARLMDDL
DRNKDQEVNFQEYVAFLGALALIYNEALK*
|
|
MSMv4 transcript
|
MACPLDQAIGLLVAIFHKYSGKEGDKHTLSKKELKELIQKELTIGSKLQDAEIARLMDDL
DRNKDQEVNFQEYVAFLGALALIYNEALK*
|
| homology | 100.00 (90 / 90) |
|