| Reports |
| substitution |
| cSNPs | 6 |
| Insertion | 12 |
| Deletion | 18 |
| SNPs |
+1kb
54468875(c.-68A>C),
54468886(c.-79T>A),
54469041(c.-234G>T),
54469298(c.-491C>T),
54469626(c.-819C>T),
54469997(c.-1190G>T),
54470405(c.-1598T>C),
54470567(c.-1760T>C),
54471075(c.-2268C>T),
54471253(c.-2446C>T),
54471390(c.-2583C>T),
54471417(c.-2610A>T),
54471670(c.-2863T>C),
54472081(c.-3274A>T),
54472228(c.-3421T>C),
54472249(c.-3442C>T),
54472322(c.-3515G>A),
54472582(c.-3775A>G),
54472585(c.-3778T>A),
54472649(c.-3842G>T),
54472782(c.-3975C>G),
54472881(c.-4074G>A),
54473007(c.-4200T>C),
54473149(c.-4342G>A),
54473304(c.-4497T>C),
54473312(c.-4505C>T),
54473557(c.-4750C>T),
5'UTR
CDS
3'UTR
54458917(c.*1157A>G),
54458991(c.*1083G>T),
54458992(c.*1082T>C),
54459177(c.*897C>T),
54459190(c.*884G>C),
54459229(c.*845C>T),
54459333(c.*741G>A),
54459355(c.*719C>A),
54459358(c.*716T>C),
54459400(c.*674C>T),
54459428(c.*646G>T),
54459624(c.*450G>A),
54459634(c.*440G>C),
54459702(c.*372C>T),
54459720(c.*354C>T),
54459853(c.*221C>A),
54460002(c.*72C>T),
INTRON
54461386(c.893-1149T>C),
54461787(c.893-1550G>A),
54462271(c.892+1201T>C),
54462487(c.892+985A>G),
54462754(c.892+718A>G),
54462782(c.892+690T>C),
54463205(c.892+267G>C),
54463246(c.892+226T>C),
54463255(c.892+217A>G),
54464436(c.630-593G>A),
54465437(c.629+743A>G),
54465782(c.629+398A>T),
54465852(c.629+328T>C),
54466538(c.425-154G>A),
54466562(c.425-178G>A),
54466585(c.425-201G>A),
54466653(c.425-269A>T),
54467015(c.425-631A>G),
54467025(c.425-641G>A),
54467092(c.425-708G>A),
54467123(c.424+703C>T),
54467174(c.424+652T>A),
54467175(c.424+651T>A),
54467176(c.424+650T>A),
54467311(c.424+515T>G),
54467312(c.424+514T>C),
54467313(c.424+513C>A),
54467330(c.424+496G>T),
54467476(c.424+350C>A),
54467510(c.424+316G>T),
54467545(c.424+281G>A),
54467628(c.424+198C>T),
54467735(c.424+91G>A),
54468049(c.268-67A>C),
54468133(c.268-151A>G),
54468323(c.267+218G>A),
54468335(c.267+206T>C),
54468412(c.267+129A>G),
54468413(c.267+128A>G),
54468460(c.267+81C>T),
54468482(c.267+59G>A),
-1kb
54454490(c.*5584T>A),
54454688(c.*5386G>A),
54455804(c.*4270G>T),
54455813(c.*4261C>A),
54455820(c.*4254G>T),
54455910(c.*4164C>T),
54456081(c.*3993G>A),
54456085(c.*3989C>T),
54456111(c.*3963A>G),
54456161(c.*3913C>A),
54456197(c.*3877C>T),
54456220(c.*3854C>T),
54456358(c.*3716G>A),
54456383(c.*3691C>T),
54456401(c.*3673A>G),
54456575(c.*3499G>T),
54456626(c.*3448T>G),
54456750(c.*3324T>C),
54456819(c.*3255G>T),
54456868(c.*3206T>C),
54456931(c.*3143C>T),
54456969(c.*3105T>C),
54457004(c.*3070T>C),
54457043(c.*3031T>C),
54457088(c.*2986G>T),
54457149(c.*2925A>C),
54457155(c.*2919A>G),
54457204(c.*2870C>G),
54457336(c.*2738A>G),
54457412(c.*2662T>C),
54457810(c.*2264G>A),
54457987(c.*2087G>A),
54457992(c.*2082G>C),
54457993(c.*2081A>C),
54458030(c.*2044T>C),
54458036(c.*2038A>C),
54458107(c.*1967T>G),
54458206(c.*1868G>A),
54458299(c.*1775T>C),
54458377(c.*1697A>G),
54458396(c.*1678C>T),
54458426(c.*1648T>G),
54458584(c.*1490C>G),
54458607(c.*1467T>C),
54458670(c.*1404G>A),
54458675(c.*1399T>C),
54458710(c.*1364T>G),
54458774(c.*1300A>G),
|
| 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 | 6 |
| non-synonymous num | 0 |
| synonymous substitutions |
54463833 (p.Leu214Leu),
54466242 (p.Ser189Ser),
54466317 (p.Val164Val),
54467833 (p.Asn139Asn),
54467899 (p.Thr117Thr),
54467947 (p.Ser101Ser),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000026990)
|
MAAPAAVLGPSALGQSGPGSMAPWCSVSSGPSRYVLGMQELFRGHSKTREFPAHSAKVHS
VAWSCDGRRLASGSFDKTASVFLLEKDRLVKENNYRGHGDSVDQLCWHPSNPDLFVTASG
DKTIRIWDVRTTKCIATVNTKGENINICWSPDGQTIAVGNKDDVVTFIDAKTHRSKAEEQ
FKFEVNEISWNNDNNMFFLTNGNGCINILSYPELKPVQSINAHPSNCICIKFDPMGKYFA
TGSADALVSLWDVDELVCVRCFSRLDWPVRTLSFSHDGKMLASASEDHFIDIAEVETGDK
LWEVQCESPTFTVAWHPKRPLLAFACDDKDGKYDSSREAGTVKLFGLPNDS*
|
|
MSMv4 transcript
|
MAAPAAVLGPSALGQSGPGSMAPWCSVSSGPSRYVLGMQELFRGHSKTREFPAHSAKVHS
VAWSCDGRRLASGSFDKTASVFLLEKDRLVKENNYRGHGDSVDQLCWHPSNPDLFVTASG
DKTIRIWDVRTTKCIATVNTKGENINICWSPDGQTIAVGNKDDVVTFIDAKTHRSKAEEQ
FKFEVNEISWNNDNNMFFLTNGNGCINILSYPELKPVQSINAHPSNCICIKFDPMGKYFA
TGSADALVSLWDVDELVCVRCFSRLDWPVRTLSFSHDGKMLASASEDHFIDIAEVETGDK
LWEVQCESPTFTVAWHPKRPLLAFACDDKDGKYDSSREAGTVKLFGLPNDS*
|
| homology | 100.00 (352 / 352) |
|