| Reports |
|---|
| substitution |
|---|
| cSNPs | 3 |
|---|
| Insertion | 14 |
|---|
| Deletion | 19 |
|---|
| SNPs |
+1kb
49249311(c.-841A>G),
49249864(c.-1394G>A),
49250629(c.-2159T>G),
49250686(c.-2216T>C),
49250698(c.-2228A>G),
49250752(c.-2282T>A),
49250972(c.-2502G>T),
49251054(c.-2584G>T),
49251140(c.-2670A>G),
49251551(c.-3081A>G),
49251653(c.-3183G>A),
49251718(c.-3248C>G),
49251769(c.-3299A>G),
49251808(c.-3338G>T),
49251828(c.-3358G>A),
49252700(c.-4230G>A),
49252714(c.-4244A>C),
49252753(c.-4283A>T),
49252972(c.-4502G>A),
49253040(c.-4570G>T),
49253053(c.-4583C>T),
49253139(c.-4669C>T),
49253157(c.-4687G>A),
49253195(c.-4725T>G),
49253529(c.-5059G>T),
49253582(c.-5112A>G),
- 5'UTR
- CDS
- 3'UTR
- INTRON
49231622(c.390-291A>T),
49231977(c.390-646G>C),
49232391(c.390-1060A>G),
49232516(c.390-1185T>C),
49232521(c.390-1190C>A),
49232556(c.390-1225A>G),
49232562(c.390-1231A>G),
49232731(c.390-1400C>G),
49232740(c.390-1409A>G),
49233019(c.390-1688A>G),
49233022(c.390-1691G>A),
49233092(c.390-1761C>T),
49233177(c.390-1846T>C),
49233254(c.390-1923T>G),
49233277(c.390-1946G>A),
49233284(c.390-1953G>A),
49233312(c.390-1981G>A),
49233422(c.390-2091G>A),
49233612(c.390-2281A>G),
49233695(c.390-2364G>C),
49233699(c.390-2368C>T),
49233848(c.390-2517C>T),
49234009(c.390-2678C>T),
49234046(c.390-2715G>A),
49234131(c.390-2800G>A),
49234245(c.390-2914A>T),
49234271(c.390-2940C>T),
49234372(c.390-3041T>A),
49234505(c.389+2919C>G),
49234509(c.389+2915A>G),
49234568(c.389+2856A>G),
49234598(c.389+2826C>T),
49234637(c.389+2787G>A),
49234647(c.389+2777G>T),
49234977(c.389+2447T>C),
49235220(c.389+2204A>G),
49235266(c.389+2158C>T),
49235450(c.389+1974A>G),
49236045(c.389+1379C>T),
49236346(c.389+1078C>T),
49236394(c.389+1030G>A),
49236395(c.389+1029T>C),
49237702(c.201-90C>T),
49237736(c.201-124A>G),
49237741(c.201-129C>T),
49237801(c.201-189C>T),
49237868(c.201-256G>A),
49238125(c.201-513G>T),
49238168(c.201-556C>T),
49238528(c.200+261T>C),
49238589(c.200+200G>T),
49238612(c.200+177G>A),
49238633(c.200+156C>T),
49238956(c.53-20G>T),
49239037(c.53-101C>T),
49239039(c.53-103G>A),
49239133(c.53-197C>T),
49239165(c.53-229A>G),
49239215(c.53-279T>C),
49239651(c.53-715A>G),
49239658(c.53-722G>C),
49239717(c.53-781C>A),
49239777(c.53-841G>A),
49239796(c.53-860A>G),
49239820(c.53-884C>T),
49239863(c.53-927A>C),
49239869(c.53-933A>G),
49239938(c.53-1002A>G),
49240110(c.53-1174T>G),
49240291(c.53-1355C>T),
49240312(c.53-1376C>G),
49240329(c.53-1393C>T),
49240515(c.53-1579T>C),
49240747(c.53-1811T>G),
49240866(c.53-1930T>A),
49240885(c.53-1949T>C),
49241110(c.53-2174A>C),
49241115(c.53-2179G>A),
49241138(c.53-2202T>C),
49241153(c.53-2217G>A),
49241232(c.53-2296G>A),
49241261(c.53-2325T>A),
49241309(c.53-2373C>A),
49241371(c.53-2435C>G),
49241438(c.53-2502A>G),
49241454(c.53-2518T>C),
49241517(c.53-2581G>T),
49241547(c.53-2611A>T),
49241573(c.53-2637C>T),
49241707(c.53-2771C>T),
49241738(c.53-2802T>C),
49241828(c.53-2892C>T),
49241863(c.53-2927G>T),
49241885(c.53-2949G>A),
49242046(c.53-3110G>A),
49242076(c.53-3140A>G),
49242136(c.53-3200T>C),
49242173(c.53-3237C>T),
49242189(c.53-3253G>A),
49242503(c.53-3567G>A),
49242538(c.53-3602A>G),
49242832(c.53-3896T>C),
49242954(c.53-4018G>A),
49243137(c.53-4201T>C),
49243151(c.53-4215A>G),
49243386(c.53-4450C>T),
49243636(c.53-4700A>G),
49244545(c.52+3874A>G),
49244992(c.52+3427G>A),
49244998(c.52+3421A>G),
49245281(c.52+3138G>A),
49245323(c.52+3096T>C),
49245579(c.52+2840C>A),
49245912(c.52+2507G>A),
49246075(c.52+2344G>A),
49246102(c.52+2317A>G),
49246173(c.52+2246G>A),
49246209(c.52+2210T>C),
49246332(c.52+2087A>G),
49246483(c.52+1936G>A),
49246609(c.52+1810G>T),
49246705(c.52+1714T>C),
49246837(c.52+1582T>G),
49247003(c.52+1416G>A),
49247054(c.52+1365G>A),
49247081(c.52+1338C>G),
49247293(c.52+1126G>T),
49248390(c.52+29A>C),
-
-1kb
49226305(c.*4998C>T),
49226478(c.*4825C>T),
49226486(c.*4817C>T),
49226531(c.*4772G>T),
49226537(c.*4766G>A),
49226575(c.*4728T>C),
49226584(c.*4719A>G),
49226663(c.*4640C>T),
49226757(c.*4546A>G),
49226875(c.*4428C>T),
49227002(c.*4301G>T),
49227024(c.*4279A>G),
49227052(c.*4251A>C),
49227105(c.*4198G>A),
49227107(c.*4196C>T),
49227339(c.*3964G>A),
49227350(c.*3953C>T),
49227358(c.*3945G>A),
49227434(c.*3869C>T),
49227574(c.*3729C>T),
49227641(c.*3662C>A),
49228066(c.*3237A>G),
49228153(c.*3150C>T),
49228158(c.*3145A>T),
49228264(c.*3039A>T),
49228268(c.*3035A>G),
49228270(c.*3033A>G),
49228272(c.*3031A>G),
49228274(c.*3029A>G),
49228553(c.*2750C>A),
49228562(c.*2741T>C),
49229163(c.*2140A>G),
49229184(c.*2119G>A),
49229492(c.*1811G>A),
49230094(c.*1209T>C),
49230118(c.*1185G>A),
49230188(c.*1115T>C),
49230245(c.*1058G>T),
49230872(c.*431A>G),
49230912(c.*391T>C),
49231016(c.*287T>C),
49231198(c.*105T>A),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
49234814 (c.389+2609delT),
49235096 (c.389+2326_389+2327delCA),
49237905 (c.201-299_201-294delTTTTTT),
49239080 (c.53-148_53-145delAATA),
49241535 (c.53-2601_53-2600delCT),
49241853 (c.53-2925_53-2918delGGGGTGGG),
49243115 (c.53-4188_53-4180delCCCCCCCCC),
49244105 (c.52+4308_52+4313delGTGTGT),
49245047 (c.52+3364_52+3371delAAACAAAC),
49245078 (c.52+3337_52+3340delCACT),
49245829 (c.52+2588_52+2589delGA),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 3 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
49237603 (p.Gln70Gln),
49238812 (p.Lys59Lys),
49238818 (p.Val57Val),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000135784)
|
MRRLSLSKVTCLALESKAVPPHETFGFKVAVIASIVSCAIILLMSMAFLTCCLLKCVQKN
ERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGNGGPSGGGGKPGIQHS
QAHDNHSFTTDPGDIREQA
|
|
MSMv4 transcript
|
MRRLSLSKVTCLALESKAVPPHETFGFKVAVIASIVSCAIILLMSMAFLTCCLLKCVQKN
ERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGNGGPSGGGGKPGIQHS
QAHDNHSFTTDPGDIREQA
|
| homology | 100.00 (139 / 139) |
|---|
|
