Reports |
substitution |
cSNPs | 3 |
Insertion | 9 |
Deletion | 16 |
SNPs |
+1kb
49248390(c.-258A>C),
49249311(c.-1179A>G),
49249864(c.-1732G>A),
49250629(c.-2497T>G),
49250686(c.-2554T>C),
49250698(c.-2566A>G),
49250752(c.-2620T>A),
49250972(c.-2840G>T),
49251054(c.-2922G>T),
49251140(c.-3008A>G),
49251551(c.-3419A>G),
49251653(c.-3521G>A),
49251718(c.-3586C>G),
49251769(c.-3637A>G),
49251808(c.-3676G>T),
49251828(c.-3696G>A),
49252700(c.-4568G>A),
49252714(c.-4582A>C),
49252753(c.-4621A>T),
49252972(c.-4840G>A),
49253040(c.-4908G>T),
49253053(c.-4921C>T),
49253139(c.-5007C>T),
5'UTR
CDS
3'UTR
INTRON
49238956(c.278-20G>T),
49239037(c.278-101C>T),
49239039(c.278-103G>A),
49239133(c.278-197C>T),
49239165(c.278-229A>G),
49239215(c.278-279T>C),
49239651(c.278-715A>G),
49239658(c.278-722G>C),
49239717(c.277+766C>A),
49239777(c.277+706G>A),
49239796(c.277+687A>G),
49239820(c.277+663C>T),
49239863(c.277+620A>C),
49239869(c.277+614A>G),
49239938(c.277+545A>G),
49240110(c.277+373T>G),
49240291(c.277+192C>T),
49240312(c.277+171C>G),
49240329(c.277+154C>T),
49240747(c.89-76T>G),
49240866(c.89-195T>A),
49240885(c.89-214T>C),
49241110(c.89-439A>C),
49241115(c.89-444G>A),
49241138(c.89-467T>C),
49241153(c.89-482G>A),
49241232(c.89-561G>A),
49241261(c.89-590T>A),
49241309(c.89-638C>A),
49241371(c.89-700C>G),
49241438(c.89-767A>G),
49241454(c.89-783T>C),
49241517(c.89-846G>T),
49241547(c.89-876A>T),
49241573(c.89-902C>T),
49241707(c.89-1036C>T),
49241738(c.89-1067T>C),
49241828(c.89-1157C>T),
49241863(c.89-1192G>T),
49241885(c.89-1214G>A),
49242046(c.89-1375G>A),
49242076(c.89-1405A>G),
49242136(c.89-1465T>C),
49242173(c.89-1502C>T),
49242189(c.89-1518G>A),
49242503(c.89-1832G>A),
49242538(c.89-1867A>G),
49242832(c.89-2161T>C),
49242954(c.89-2283G>A),
49243137(c.89-2466T>C),
49243151(c.89-2480A>G),
49243386(c.89-2715C>T),
49243636(c.89-2965A>G),
49244545(c.88+3500A>G),
49244992(c.88+3053G>A),
49244998(c.88+3047A>G),
49245281(c.88+2764G>A),
49245323(c.88+2722T>C),
49245579(c.88+2466C>A),
49245912(c.88+2133G>A),
49246075(c.88+1970G>A),
49246102(c.88+1943A>G),
49246173(c.88+1872G>A),
49246209(c.88+1836T>C),
49246332(c.88+1713A>G),
49246483(c.88+1562G>A),
49246609(c.88+1436G>T),
49246705(c.88+1340T>C),
49246837(c.88+1208T>G),
49247003(c.88+1042G>A),
49247054(c.88+991G>A),
49247081(c.88+964C>G),
49247293(c.88+752G>T),
-1kb
49233019(c.*5682A>G),
49233022(c.*5679G>A),
49233092(c.*5609C>T),
49233177(c.*5524T>C),
49233254(c.*5447T>G),
49233277(c.*5424G>A),
49233284(c.*5417G>A),
49233312(c.*5389G>A),
49233422(c.*5279G>A),
49233612(c.*5089A>G),
49233695(c.*5006G>C),
49233699(c.*5002C>T),
49233848(c.*4853C>T),
49234009(c.*4692C>T),
49234046(c.*4655G>A),
49234131(c.*4570G>A),
49234245(c.*4456A>T),
49234271(c.*4430C>T),
49234372(c.*4329T>A),
49234505(c.*4196C>G),
49234509(c.*4192A>G),
49234568(c.*4133A>G),
49234598(c.*4103C>T),
49234637(c.*4064G>A),
49234647(c.*4054G>T),
49234977(c.*3724T>C),
49235220(c.*3481A>G),
49235266(c.*3435C>T),
49235450(c.*3251A>G),
49236045(c.*2656C>T),
49236346(c.*2355C>T),
49236394(c.*2307G>A),
49236395(c.*2306T>C),
49237603(c.*1098A>G),
49237702(c.*999C>T),
49237736(c.*965A>G),
49237741(c.*960C>T),
49237801(c.*900C>T),
49237868(c.*833G>A),
|
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 | 2 |
non-synonymous num | 1 |
synonymous substitutions |
49238812 (p.Lys134Lys),
49238818 (p.Val132Val),
|
non-synonymous substitutions |
49240515 (p.Val82Ala),
|
B6 transcript
(ENSMUST00000119721)
|
MRRTSATLRGRARPRWRAGNTTPVPVNQTGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFH
CPSGHQMVGSGLLTCAWNGSTVDWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMS
MAFLTCCLLKCVQKNERRRADRYSGLMSFQKLCLAVRLLITSCQVPWGSV*
|
MSMv4 transcript
|
MRRTSATLRGRARPRWRAGNTTPVPVNQTGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFH
CPSGHQMVGSGLLTCAWNGSTADWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMS
MAFLTCCLLKCVQKNERRRADRYSGLMSFQKLCLAVRLLITSCQVPWGSV*
|
homology | 99.42 (171 / 171) |
|