| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 8 |
| Deletion | 20 |
| SNPs |
+1kb
44118837(c.-338C>T),
44118996(c.-497G>A),
44119126(c.-627T>C),
44119897(c.-1398G>A),
44119932(c.-1433A>T),
44120077(c.-1578G>A),
44120088(c.-1589T>C),
44120123(c.-1624T>C),
44120126(c.-1627T>C),
44120298(c.-1799C>T),
44120405(c.-1906A>G),
44120413(c.-1914T>C),
44120470(c.-1971A>T),
44120503(c.-2004G>C),
44120507(c.-2008T>A),
44120522(c.-2023C>T),
44120531(c.-2032A>G),
44120579(c.-2080C>T),
44120757(c.-2258A>G),
44120762(c.-2263T>C),
44120814(c.-2315C>T),
44121010(c.-2511T>C),
44121175(c.-2676C>G),
44121199(c.-2700G>T),
44121344(c.-2845C>T),
44121430(c.-2931G>A),
44121511(c.-3012G>A),
44121571(c.-3072A>G),
44121870(c.-3371G>A),
44121927(c.-3428G>C),
44121987(c.-3488C>T),
44122101(c.-3602C>T),
44122155(c.-3656G>A),
44122213(c.-3714C>T),
44122232(c.-3733T>C),
44122424(c.-3925G>A),
44122457(c.-3958C>G),
44122462(c.-3963C>T),
44122481(c.-3982C>T),
44122526(c.-4027A>T),
44122576(c.-4077A>G),
44122596(c.-4097A>G),
44122610(c.-4111A>G),
44122894(c.-4395A>T),
44123345(c.-4846G>A),
44123399(c.-4900T>A),
44123485(c.-4986G>A),
44123670(c.-5171T>C),
5'UTR
CDS
3'UTR
INTRON
44114952(c.*133-53G>T),
44114997(c.*133-98C>A),
44115023(c.*133-124G>A),
44115036(c.*133-137G>A),
44115038(c.*133-139T>G),
44115047(c.*133-148A>T),
44115055(c.*133-156A>G),
44115210(c.*133-311T>A),
44115249(c.*133-350T>A),
44115358(c.*133-459G>A),
44115359(c.*133-460T>C),
44115392(c.*133-493C>T),
44115525(c.*133-626G>A),
44115558(c.*132+597A>T),
44115581(c.*132+574G>A),
44115606(c.*132+549C>T),
44115619(c.*132+536T>C),
44115680(c.*132+475T>C),
44115687(c.*132+468A>G),
44115705(c.*132+450A>G),
44115732(c.*132+423A>G),
44115733(c.*132+422C>T),
44115791(c.*132+364A>C),
44115837(c.*132+318T>G),
44115846(c.*132+309T>C),
44116078(c.*132+77G>T),
44116319(c.389-7A>G),
44116406(c.389-94G>A),
44116433(c.389-121A>G),
44116554(c.389-242G>T),
44116646(c.389-334G>A),
44117278(c.183-35A>T),
44117314(c.183-71C>G),
44117380(c.183-137G>A),
44117456(c.183-213A>G),
44117550(c.183-307C>T),
44117566(c.183-323A>G),
44117572(c.183-329G>T),
44117659(c.183-416A>T),
44117692(c.183-449C>T),
44117696(c.183-453A>G),
44117897(c.182+421C>T),
44117925(c.182+393C>T),
44118060(c.182+258A>G),
44118127(c.182+191A>C),
44118167(c.182+151C>T),
44118189(c.182+129T>G),
-1kb
44109789(c.*6498A>G),
44109801(c.*6486G>A),
44109835(c.*6452A>G),
44109872(c.*6415G>A),
44109881(c.*6406G>A),
44109895(c.*6392T>G),
44109901(c.*6386T>G),
44110148(c.*6139G>C),
44110253(c.*6034A>G),
44110268(c.*6019C>A),
44110382(c.*5905A>G),
44110422(c.*5865A>T),
44110490(c.*5797T>C),
44110500(c.*5787G>A),
44110527(c.*5760T>C),
44110637(c.*5650T>C),
44110640(c.*5647C>A),
44110690(c.*5597G>C),
44110699(c.*5588A>T),
44110724(c.*5563C>T),
44111037(c.*5250G>T),
44111173(c.*5114A>G),
44111174(c.*5113A>T),
44111231(c.*5056G>T),
44111311(c.*4976A>G),
44111769(c.*4518G>A),
44111811(c.*4476G>A),
44112041(c.*4246G>A),
44112189(c.*4098G>A),
44112301(c.*3986A>G),
44112302(c.*3985C>A),
44112338(c.*3949C>T),
44112345(c.*3942C>T),
44112539(c.*3748T>C),
44112681(c.*3606C>T),
44113282(c.*3005G>A),
44113368(c.*2919T>C),
44113467(c.*2820T>G),
44113497(c.*2790G>A),
44113615(c.*2672A>G),
44113620(c.*2667T>A),
44113626(c.*2661T>C),
44113985(c.*2302A>G),
44114100(c.*2187T>G),
44114154(c.*2133C>T),
44114167(c.*2120G>C),
44114216(c.*2071A>T),
44114226(c.*2061C>T),
44114255(c.*2032T>A),
44114352(c.*1935G>A),
44114601(c.*1686G>T),
44114609(c.*1678T>C),
44114615(c.*1672T>A),
44114736(c.*1551G>T),
44114745(c.*1542A>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
44109890 (c.*6396delT),
44110693 (c.*5593delT),
44111670 (c.*4616delG),
44111889 (c.*4396_*4397delAT),
44112091 (c.*4195delA),
44112141 (c.*4145delC),
44112143 (c.*4143delC),
44113390 (c.*2896delC),
44114191 (c.*2087_*2095delGGCCACACT),
44114308 (c.*1977_*1978delTA),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
44117192 (p.Pro78Pro),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000152643)
|
MFSISLLSCLFLGTVPALAQTGGERRLSPEKSEIWGPGLKAHVVLPARYFYIRAVDTSGE
QFTSSPGEKVFQVKISAPDEQFTRVGVQVLDRKDGSFIVRYRMYASYRNLKIEVKHHGQH
VAESPYVLRGLKKNFQG*
|
|
MSMv4 transcript
|
MFSISLLSCLFLGTVPALAQTGGERRLSPEKSEIWGPGLKAHVVLPARYFYIRAVDTSGE
QFTSSPGEKVFQVKISAPDEQFTRVGVQVLDRKDGSFIVRYRMYASYRNLKIEVKHHGQH
VAESPYVLRGLKKNFQG*
|
| homology | 100.00 (138 / 138) |
|