| Reports |
| substitution |
| cSNPs | 0 |
| Insertion | 14 |
| Deletion | 5 |
| SNPs |
+1kb
24477683(c.-327G>A),
24477742(c.-386A>T),
24477794(c.-438G>T),
24477852(c.-496T>C),
24477896(c.-540G>A),
24478003(c.-647G>A),
24478043(c.-687A>C),
24478045(c.-689C>T),
24478065(c.-709G>A),
24478133(c.-777A>T),
24478244(c.-888T>C),
24478282(c.-926G>T),
24478677(c.-1321G>A),
24478744(c.-1388C>T),
24479190(c.-1834T>C),
24479436(c.-2080T>G),
24479439(c.-2083T>C),
24479466(c.-2110C>G),
24479467(c.-2111C>T),
24479477(c.-2121C>A),
24480167(c.-2811G>A),
24481304(c.-3948G>A),
24481371(c.-4015T>C),
24482107(c.-4751T>C),
5'UTR
CDS
3'UTR
INTRON
-1kb
24471618(c.*4884G>A),
24471672(c.*4830G>A),
24471753(c.*4749A>G),
24471878(c.*4624G>A),
24472080(c.*4422C>G),
24472152(c.*4350T>C),
24472218(c.*4284A>G),
24472252(c.*4250G>A),
24472372(c.*4130T>C),
24472420(c.*4082A>G),
24472490(c.*4012C>T),
24472921(c.*3581A>T),
24473329(c.*3173A>G),
24473531(c.*2971C>A),
24473545(c.*2957G>A),
24473583(c.*2919G>A),
24473596(c.*2906C>A),
24473613(c.*2889C>T),
24473645(c.*2857T>G),
24473716(c.*2786A>G),
24474090(c.*2412A>G),
24474117(c.*2385C>G),
24474123(c.*2379C>G),
24474126(c.*2376G>A),
24474151(c.*2351A>G),
24474306(c.*2196T>C),
24474465(c.*2037A>G),
24474563(c.*1939C>T),
24474618(c.*1884A>G),
24474981(c.*1521A>G),
24475167(c.*1335G>A),
24475759(c.*743C>T),
24475777(c.*725C>A),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
24471966 (c.*4535_*4536insCAGT),
24471986 (c.*4515_*4516insTA),
24472701 (c.*3800_*3801insG),
24472704 (c.*3797_*3798insG),
24472800 (c.*3701_*3702insGG),
24473370 (c.*3130_*3131dupTG),
24473613 (c.*2886_*2888dupTCT),
24474336 (c.*2165_*2166insTTTT),
24476429 (c.*72_*73insAA),
24476449 (c.*52_*53insAAAA),
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-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
(ENSMUST00000099556)
|
MAQEKMELDLELPAGASPAEGGGPGGGGLRRSNSAPLIHGLSDSSPVFQAEAPSARRNST
TFPSRHGLLLPASPVRMHSSRLHQIKQEEGMDLINRETVHEREVQTAMQISHSWEESFSL
SDNDVEKSASPKRIDFIPVSPAPSPTRGIGKQCFSPSLQSFVSSNGLPPSPIPSPTTRFT
TRRSQSPINCIRPSVLGPLKRKCEMETDYQPKRFFQGITNMLSSDVAQLSDPGVCVSSDT
LDGNSSSAGSSCNSPAKVSTTTDSPVSPAQAASPFIPVDELSSK*
|
|
MSMv4 transcript
|
MAQEKMELDLELPAGASPAEGGGPGGGGLRRSNSAPLIHGLSDSSPVFQAEAPSARRNST
TFPSRHGLLLPASPVRMHSSRLHQIKQEEGMDLINRETVHEREVQTAMQISHSWEESFSL
SDNDVEKSASPKRIDFIPVSPAPSPTRGIGKQCFSPSLQSFVSSNGLPPSPIPSPTTRFT
TRRSQSPINCIRPSVLGPLKRKCEMETDYQPKRFFQGITNMLSSDVAQLSDPGVCVSSDT
LDGNSSSAGSSCNSPAKVSTTTDSPVSPAQAASPFIPVDELSSK*
|
| homology | 100.00 (285 / 285) |
|