Reports |
substitution |
cSNPs | 2 |
Insertion | 14 |
Deletion | 26 |
SNPs |
-1kb
28688153(c.-5143T>C),
28688216(c.-5080A>G),
28688251(c.-5045G>C),
28688278(c.-5018T>C),
28688279(c.-5017G>A),
28688365(c.-4931G>A),
28688598(c.-4698T>C),
28688875(c.-4421A>C),
28688905(c.-4391T>C),
28689503(c.-3793G>A),
28689605(c.-3691C>T),
28689641(c.-3655G>T),
28690345(c.-2951C>A),
28690922(c.-2374C>T),
28691717(c.-1579G>T),
28691798(c.-1498A>C),
28691850(c.-1446A>G),
28691924(c.-1372G>A),
28692370(c.-926G>T),
28692507(c.-789A>G),
28692518(c.-778G>A),
28692531(c.-765T>C),
28692548(c.-748G>C),
28692661(c.-635C>T),
28693074(c.-222G>A),
5'UTR
CDS
3'UTR
INTRON
28693655(c.355+5G>T),
28693823(c.355+173A>G),
28693904(c.355+254T>A),
28693955(c.355+305A>G),
28693963(c.355+313T>G),
28693967(c.355+317C>T),
28693981(c.355+331A>T),
28693989(c.355+339A>G),
28694011(c.355+361T>C),
28694084(c.355+434C>G),
28694101(c.355+451T>A),
28694125(c.355+475C>G),
28694141(c.355+491A>G),
28694151(c.355+501A>C),
28694173(c.355+523A>G),
28694199(c.356-532A>C),
28694203(c.356-528A>T),
28694208(c.356-523T>A),
28694214(c.356-517T>G),
28694307(c.356-424C>T),
28694359(c.356-372A>C),
28694469(c.356-262A>G),
28694506(c.356-225G>T),
28694586(c.356-145A>G),
28694588(c.356-143C>T),
28694600(c.356-131C>T),
28694687(c.356-44C>T),
28694698(c.356-33C>G),
28694981(c.468-25G>A),
28695172(c.563+71C>T),
28695314(c.563+213A>G),
28695318(c.563+217A>G),
28695817(c.563+716C>T),
28695896(c.564-744T>G),
28696014(c.564-626C>G),
28696019(c.564-621A>T),
28696021(c.564-619G>T),
28696093(c.564-547G>A),
28696424(c.564-216A>G),
28696438(c.564-202C>T),
28696441(c.564-199T>C),
28696442(c.564-198T>C),
28696521(c.564-119C>T),
28696531(c.564-109G>A),
28696950(c.699+175G>A),
28697281(c.699+506A>G),
28697309(c.699+534T>C),
28697364(c.699+589A>G),
28697418(c.699+643T>G),
28697426(c.699+651A>G),
28697433(c.699+658C>T),
28697578(c.700-661C>G),
28697588(c.700-651T>G),
28697746(c.700-493C>A),
28697996(c.700-243G>A),
28698006(c.700-233C>T),
28698030(c.700-209A>G),
28698061(c.700-178C>T),
28698079(c.700-160C>T),
+1kb
28699847(c.*1465A>G),
28700010(c.*1628A>G),
28700170(c.*1788C>T),
28700510(c.*2128G>A),
28701071(c.*2689T>G),
28701187(c.*2805G>A),
28701233(c.*2851A>G),
28701573(c.*3191A>G),
28701826(c.*3444A>G),
28701850(c.*3468A>T),
28701932(c.*3550G>A),
28701933(c.*3551A>G),
28701955(c.*3573A>G),
28701960(c.*3578A>G),
28702049(c.*3667T>C),
28702152(c.*3770G>A),
28702162(c.*3780C>T),
28702216(c.*3834C>T),
28702222(c.*3840T>C),
28702289(c.*3907T>A),
28702431(c.*4049A>G),
28702543(c.*4161C>A),
28702552(c.*4170G>A),
28702563(c.*4181A>G),
28702566(c.*4184A>C),
28702612(c.*4230T>A),
28702691(c.*4309A>G),
28703709(c.*5327T>G),
28703716(c.*5334C>T),
28703771(c.*5389G>A),
28703774(c.*5392G>A),
28703862(c.*5480C>G),
28703880(c.*5498G>C),
28703884(c.*5502G>C),
28703965(c.*5583C>T),
28703995(c.*5613G>C),
28704023(c.*5641A>G),
28704083(c.*5701A>G),
28704140(c.*5758T>C),
28704234(c.*5852T>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 | 1 |
non-synonymous num | 1 |
synonymous substitutions |
28693488 (p.Leu65Leu),
|
non-synonymous substitutions |
28696764 (p.Ile230Val),
|
B6 transcript
(ENSMUST00000108281)
|
MGAWISRTRVPTPEPDPQEVLDLSRLPPELLLLVLSHVPPRTLLMHCRRVCRAWRALVDG
QALWLLLLARDHSAAGRALLTLARRCLPPAHEDTPCPLGQFCALRPLGRNLISNPCGQEG
LRKWMVRHGGDGWVVEKNRKPVPGAPSQTCFVTSFSWCRKKQVVDLVEKGLWPELLDSGG
VEIAVSDWWGARHDSGCKYRLFVTLLDAHQNVIDKFSAVPDPIEQWNNDIYLQVTHVFSG
IRRGIRFVSFEHWGQDTQFWAGHYGARVTNSSVIIRVCQS*
|
MSMv4 transcript
|
MGAWISRTRVPTPEPDPQEVLDLSRLPPELLLLVLSHVPPRTLLMHCRRVCRAWRALVDG
QALWLLLLARDHSAAGRALLTLARRCLPPAHEDTPCPLGQFCALRPLGRNLISNPCGQEG
LRKWMVRHGGDGWVVEKNRKPVPGAPSQTCFVTSFSWCRKKQVVDLVEKGLWPELLDSGG
VEIAVSDWWGARHDSGCKYRLFVTLLDAHQNVIDKFSAVPDPIEQWNNDVYLQVTHVFSG
IRRGIRFVSFEHWGQDTQFWAGHYGARVTNSSVIIRVCQS*
|
homology | 99.64 (281 / 281) |
|