| Reports |
| substitution |
| cSNPs | 0 |
| Insertion | 15 |
| Deletion | 22 |
| SNPs |
-1kb
19207208(c.-5189C>T),
19207360(c.-5037G>C),
19207381(c.-5016A>G),
19207607(c.-4790C>T),
19207639(c.-4758G>A),
19207802(c.-4595A>G),
19207858(c.-4539G>A),
19208140(c.-4257T>A),
19208449(c.-3948T>C),
19208641(c.-3756A>G),
19208849(c.-3548A>G),
19209354(c.-3043A>G),
19209628(c.-2769G>C),
19209977(c.-2420T>A),
19210155(c.-2242T>A),
19210363(c.-2034G>A),
19210917(c.-1480G>C),
19211498(c.-899C>T),
19211584(c.-813A>C),
19211809(c.-588A>G),
5'UTR
CDS
3'UTR
INTRON
19212590(c.27+167A>G),
19212728(c.27+305T>C),
19214435(c.486+26C>T),
19214516(c.486+107G>T),
19214550(c.486+141C>G),
19214933(c.486+524T>C),
19215060(c.486+651C>T),
19215077(c.486+668T>C),
19215211(c.486+802G>T),
19215381(c.486+972C>T),
19215684(c.486+1275A>G),
19215693(c.486+1284A>G),
19215795(c.486+1386A>G),
19215806(c.486+1397T>C),
19216547(c.486+2138T>C),
19216765(c.486+2356T>C),
19216777(c.486+2368A>G),
19216855(c.487-2338G>A),
19217086(c.487-2107A>T),
19218127(c.487-1066C>T),
19218308(c.487-885A>T),
19218528(c.487-665C>G),
19218544(c.487-649C>T),
19218639(c.487-554A>G),
19218778(c.487-415T>G),
19219123(c.487-70A>G),
19219670(c.547+417C>A),
19219674(c.547+421C>A),
19219720(c.547+467T>G),
19219721(c.547+468T>G),
19219870(c.547+617C>T),
19220024(c.547+771T>C),
19220088(c.547+835G>C),
19220156(c.547+903G>A),
19220157(c.547+904G>T),
19220207(c.547+954C>G),
19220403(c.547+1150G>A),
19220854(c.547+1601A>C),
19221073(c.547+1820G>A),
19221965(c.547+2712A>G),
19222316(c.547+3063C>G),
19222424(c.547+3171G>A),
19222686(c.547+3433T>A),
19223007(c.548-3429G>A),
19223066(c.548-3370A>G),
19223154(c.548-3282C>T),
19223595(c.548-2841A>G),
19223799(c.548-2637G>A),
19223868(c.548-2568T>G),
19224009(c.548-2427C>T),
19224028(c.548-2408C>T),
19224361(c.548-2075C>A),
19224435(c.548-2001A>T),
19224453(c.548-1983G>T),
19224781(c.548-1655G>A),
19224833(c.548-1603T>C),
19225820(c.548-616C>T),
19226011(c.548-425C>T),
19226150(c.548-286C>T),
19226370(c.548-66G>A),
19226910(c.767+255G>A),
19227616(c.768-826T>C),
19228268(c.768-174T>C),
19228675(c.886+115T>A),
19228889(c.886+329C>G),
19228899(c.886+339A>C),
19228916(c.886+356T>C),
19228924(c.886+364A>C),
19228973(c.886+413A>G),
19229066(c.886+506T>C),
19229456(c.886+896G>A),
19229658(c.886+1098A>T),
19230176(c.887-837A>G),
19230822(c.887-191G>A),
19231327(c.1028+173C>T),
19231384(c.1028+230C>T),
19231509(c.1028+355G>C),
19231778(c.1028+624T>C),
19231804(c.1028+650A>G),
19232188(c.1028+1034G>A),
19232285(c.1028+1131G>T),
19232628(c.1029-1422T>C),
19232865(c.1029-1185G>A),
19233267(c.1029-783A>G),
19233469(c.1029-581A>G),
+1kb
19234719(c.*372A>C),
19234800(c.*453T>A),
19234906(c.*559C>T),
19234952(c.*605G>A),
19235075(c.*728G>A),
19235176(c.*829A>T),
19235568(c.*1221T>A),
19235614(c.*1267C>A),
19236153(c.*1806T>C),
19236525(c.*2178C>G),
19236989(c.*2642C>T),
19237335(c.*2988C>T),
19237496(c.*3149G>A),
19237804(c.*3457C>A),
19238648(c.*4301A>C),
19238909(c.*4562A>T),
19238923(c.*4576A>C),
19239090(c.*4743A>C),
19239254(c.*4907C>T),
19239318(c.*4971C>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
19215284 (c.486+876delA),
19215846 (c.486+1438delT),
19219340 (c.547+102_547+105delAAAC),
19220045 (c.547+802delT),
19221243 (c.547+2003delA),
19222553 (c.547+3312_547+3315delAAAA),
19223527 (c.548-2865_548-2862delGTGT),
19226315 (c.548-117delG),
19226936 (c.767+288delA),
19228313 (c.768-119delG),
19232057 (c.1028+904_1028+913delGTTCTTTTTT),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 0 |
| non-synonymous num | 0 |
| synonymous substitutions |
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000064976)
|
MLVHTYSSMDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLP
YHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPR
RDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVI
KKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLS
PPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVH
LARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPI
GNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTN
RHTSGEGPGSKTGDKEEKHRK*
|
|
MSMv4 transcript
|
MLVHTYSSMDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLP
YHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPR
RDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVI
KKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLS
PPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVH
LARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPI
GNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTN
RHTSGEGPGSKTGDKEEKHRK*
|
| homology | 100.00 (442 / 442) |
|