| Reports |
|---|
| substitution |
|---|
| cSNPs | 0 |
|---|
| Insertion | 18 |
|---|
| Deletion | 25 |
|---|
| SNPs |
-1kb
19204708(c.-4460C>T),
19204727(c.-4441C>T),
19204780(c.-4388T>C),
19205063(c.-4105G>T),
19205490(c.-3678A>T),
19205652(c.-3516G>A),
19205728(c.-3440A>T),
19206000(c.-3168G>C),
19206278(c.-2890T>G),
19206474(c.-2694C>T),
19206930(c.-2238G>A),
19207208(c.-1960C>T),
19207360(c.-1808G>C),
19207381(c.-1787A>G),
19207607(c.-1561C>T),
19207639(c.-1529G>A),
19207802(c.-1366A>G),
19207858(c.-1310G>A),
19208140(c.-1028T>A),
19208449(c.-719T>C),
19208641(c.-527A>G),
19208849(c.-319A>G),
- 5'UTR
- CDS
- 3'UTR
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),
- INTRON
19209354(c.81+106A>G),
19209628(c.81+380G>C),
19209977(c.81+729T>A),
19210155(c.81+907T>A),
19210363(c.81+1115G>A),
19210917(c.81+1669G>C),
19211498(c.81+2250C>T),
19211584(c.81+2336A>C),
19211809(c.82-2142A>G),
19212590(c.82-1361A>G),
19212728(c.82-1223T>C),
19214435(c.540+26C>T),
19214516(c.540+107G>T),
19214550(c.540+141C>G),
19214933(c.540+524T>C),
19215060(c.540+651C>T),
19215077(c.540+668T>C),
19215211(c.540+802G>T),
19215381(c.540+972C>T),
19215684(c.540+1275A>G),
19215693(c.540+1284A>G),
19215795(c.540+1386A>G),
19215806(c.540+1397T>C),
19216547(c.540+2138T>C),
19216765(c.540+2356T>C),
19216777(c.540+2368A>G),
19216855(c.541-2338G>A),
19217086(c.541-2107A>T),
19218127(c.541-1066C>T),
19218308(c.541-885A>T),
19218528(c.541-665C>G),
19218544(c.541-649C>T),
19218639(c.541-554A>G),
19218778(c.541-415T>G),
19219123(c.541-70A>G),
19219670(c.601+417C>A),
19219674(c.601+421C>A),
19219720(c.601+467T>G),
19219721(c.601+468T>G),
19219870(c.601+617C>T),
19220024(c.601+771T>C),
19220088(c.601+835G>C),
19220156(c.601+903G>A),
19220157(c.601+904G>T),
19220207(c.601+954C>G),
19220403(c.601+1150G>A),
19220854(c.601+1601A>C),
19221073(c.601+1820G>A),
19221965(c.601+2712A>G),
19222316(c.601+3063C>G),
19222424(c.601+3171G>A),
19222686(c.601+3433T>A),
19223007(c.602-3429G>A),
19223066(c.602-3370A>G),
19223154(c.602-3282C>T),
19223595(c.602-2841A>G),
19223799(c.602-2637G>A),
19223868(c.602-2568T>G),
19224009(c.602-2427C>T),
19224028(c.602-2408C>T),
19224361(c.602-2075C>A),
19224435(c.602-2001A>T),
19224453(c.602-1983G>T),
19224781(c.602-1655G>A),
19224833(c.602-1603T>C),
19225820(c.602-616C>T),
19226011(c.602-425C>T),
19226150(c.602-286C>T),
19226370(c.602-66G>A),
19226910(c.821+255G>A),
19227616(c.822-826T>C),
19228268(c.822-174T>C),
19228675(c.940+115T>A),
19228889(c.940+329C>G),
19228899(c.940+339A>C),
19228916(c.940+356T>C),
19228924(c.940+364A>C),
19228973(c.940+413A>G),
19229066(c.940+506T>C),
19229456(c.940+896G>A),
19229658(c.940+1098A>T),
19230176(c.941-837A>G),
19230822(c.941-191G>A),
19231327(c.1082+173C>T),
19231384(c.1082+230C>T),
19231509(c.1082+355G>C),
19231778(c.1082+624T>C),
19231804(c.1082+650A>G),
19232188(c.1082+1034G>A),
19232285(c.1082+1131G>T),
19232628(c.1083-1422T>C),
19232865(c.1083-1185G>A),
19233267(c.1083-783A>G),
19233469(c.1083-581A>G),
-
+1kb
19238648(c.*4301A>C),
19238909(c.*4562A>T),
19238923(c.*4576A>C),
19239090(c.*4743A>C),
19239254(c.*4907C>T),
19239318(c.*4971C>T),
19239993(c.*5646C>T),
19240013(c.*5666A>G),
19240478(c.*6131G>A),
19240625(c.*6278C>T),
19242801(c.*8454T>C),
19243008(c.*8661C>T),
19243400(c.*9053T>C),
19243444(c.*9097A>G),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
19211627 (c.82-2322_82-2320delTCC),
19211886 (c.82-2063delA),
19212267 (c.82-1683_82-1680delTTTT),
19215284 (c.540+876delA),
19215846 (c.540+1438delT),
19219340 (c.601+102_601+105delAAAC),
19220045 (c.601+802delT),
19221243 (c.601+2003delA),
19222553 (c.601+3312_601+3315delAAAA),
19223527 (c.602-2865_602-2862delGTGT),
19226315 (c.602-117delG),
19226936 (c.821+288delA),
19228313 (c.822-119delG),
19232057 (c.1082+904_1082+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
(ENSMUST00000027059)
|
MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHT
PSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGS
LLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQ
SVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLL
SSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRR
KAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLAT
KQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
LTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK*
|
|
MSMv4 transcript
|
MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHT
PSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGS
LLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQ
SVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLL
SSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRR
KAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLAT
KQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
LTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK*
|
| homology | 100.00 (460 / 460) |
|---|
|
