Reports |
substitution |
cSNPs | 2 |
Insertion | 6 |
Deletion | 20 |
SNPs |
+1kb
52929753(c.-112A>C),
52929768(c.-127T>C),
52929772(c.-131G>T),
52929775(c.-134G>A),
52929780(c.-139G>A),
52929788(c.-147T>A),
52929810(c.-169C>T),
52929957(c.-316A>G),
52929978(c.-337T>C),
52930064(c.-423G>T),
52930085(c.-444C>A),
52930240(c.-599T>C),
52930266(c.-625T>C),
52930372(c.-731C>T),
52930382(c.-741A>G),
52930394(c.-753C>G),
52930526(c.-885T>A),
52930561(c.-920C>T),
52930592(c.-951T>C),
52930728(c.-1087G>A),
52930746(c.-1105C>T),
52930815(c.-1174C>T),
52930938(c.-1297T>A),
52930949(c.-1308C>A),
52931012(c.-1371C>T),
52931148(c.-1507C>T),
52931233(c.-1592A>G),
52931335(c.-1694T>C),
52931400(c.-1759C>G),
52931548(c.-1907T>C),
52931608(c.-1967T>C),
52931698(c.-2057G>A),
52931716(c.-2075T>G),
52931747(c.-2106C>T),
52931782(c.-2141C>T),
52932379(c.-2738G>T),
52932433(c.-2792T>C),
52932782(c.-3141G>A),
52932824(c.-3183C>G),
52933031(c.-3390G>A),
52933190(c.-3549A>G),
52933424(c.-3783T>C),
52933497(c.-3856G>A),
52933503(c.-3862T>A),
52933929(c.-4288C>T),
52934510(c.-4869G>C),
5'UTR
CDS
3'UTR
INTRON
52913603(c.344-542A>G),
52913654(c.344-593A>T),
52913656(c.344-595A>T),
52913659(c.344-598A>G),
52913807(c.344-746G>A),
52913819(c.344-758T>G),
52913829(c.344-768C>T),
52913840(c.344-779A>G),
52913971(c.344-910T>C),
52913999(c.344-938A>G),
52914099(c.344-1038A>G),
52915006(c.344-1945T>C),
52915031(c.344-1970C>A),
52915268(c.344-2207G>A),
52915293(c.344-2232T>C),
52915299(c.344-2238C>T),
52915341(c.344-2280G>C),
52915398(c.344-2337T>C),
52915405(c.344-2344A>T),
52915412(c.344-2351T>C),
52915509(c.344-2448C>G),
52915608(c.344-2547C>T),
52915753(c.344-2692G>A),
52915914(c.344-2853C>T),
52915985(c.344-2924C>T),
52915989(c.344-2928C>G),
52916188(c.343+2813A>C),
52916389(c.343+2612C>T),
52916999(c.343+2002G>A),
52917023(c.343+1978C>T),
52917041(c.343+1960T>C),
52917128(c.343+1873G>A),
52917141(c.343+1860G>A),
52917195(c.343+1806A>T),
52917280(c.343+1721C>A),
52917281(c.343+1720T>G),
52917448(c.343+1553G>A),
52917593(c.343+1408G>A),
52917616(c.343+1385C>T),
52918032(c.343+969C>T),
52918206(c.343+795G>T),
52918241(c.343+760G>A),
52918677(c.343+324T>C),
52918889(c.343+112G>T),
52918905(c.343+96A>G),
52919110(c.256-22T>C),
52919321(c.188-55C>T),
52919348(c.188-82G>A),
52919683(c.188-417T>C),
52919705(c.188-439A>G),
52919731(c.188-465C>T),
52920101(c.188-835G>A),
52920250(c.188-984G>A),
52920287(c.188-1021A>G),
52920312(c.188-1046A>C),
52920453(c.188-1187G>C),
52920768(c.188-1502C>T),
52920891(c.188-1625G>A),
52920916(c.188-1650C>A),
52920938(c.188-1672G>A),
52920969(c.188-1703C>T),
52921132(c.188-1866T>C),
52921226(c.188-1960G>A),
52921332(c.188-2066C>G),
52921351(c.188-2085T>C),
52921358(c.188-2092A>C),
52921444(c.188-2178T>C),
52921496(c.188-2230C>T),
52921735(c.188-2469G>A),
52921806(c.188-2540G>A),
52922370(c.188-3104T>G),
52922847(c.188-3581A>G),
52922945(c.188-3679T>A),
52923392(c.188-4126C>G),
52923394(c.188-4128G>C),
52923413(c.188-4147G>C),
52923450(c.188-4184A>G),
52923511(c.188-4245C>A),
52923782(c.188-4516T>C),
52923801(c.188-4535A>G),
52924124(c.188-4858T>C),
52924352(c.188-5086C>T),
52924506(c.187+4949G>A),
52924602(c.187+4853A>G),
52924732(c.187+4723A>G),
52924873(c.187+4582G>T),
52924946(c.187+4509T>C),
52925037(c.187+4418G>C),
52925224(c.187+4231T>C),
52925531(c.187+3924G>A),
52925542(c.187+3913C>T),
52925619(c.187+3836G>A),
52926092(c.187+3363A>G),
52926408(c.187+3047A>G),
52926586(c.187+2869A>C),
52926727(c.187+2728A>C),
52926842(c.187+2613C>A),
52926988(c.187+2467G>A),
52927144(c.187+2311T>C),
52927265(c.187+2190A>G),
52927347(c.187+2108G>A),
52928055(c.187+1400T>G),
52928136(c.187+1319A>G),
52928137(c.187+1318C>A),
52928141(c.187+1314C>T),
52928222(c.187+1233G>A),
52928379(c.187+1076G>A),
52928399(c.187+1056G>A),
52928414(c.187+1041G>A),
52928420(c.187+1035G>A),
52928422(c.187+1033A>T),
52928457(c.187+998C>T),
52928458(c.187+997G>A),
52928800(c.187+655T>C),
52929203(c.187+252C>T),
52929360(c.187+95T>A),
-1kb
52905566(c.*7362T>C),
52905673(c.*7255A>G),
52905882(c.*7046A>G),
52905904(c.*7024C>A),
52906189(c.*6739C>G),
52906272(c.*6656A>T),
52906604(c.*6324C>T),
52906655(c.*6273A>G),
52907005(c.*5923A>G),
52907393(c.*5535A>G),
52907905(c.*5023G>A),
52908051(c.*4877G>C),
52908597(c.*4331A>G),
52908892(c.*4036A>C),
52908893(c.*4035T>C),
52909074(c.*3854C>T),
52909481(c.*3447G>C),
52909523(c.*3405A>C),
52909701(c.*3227A>G),
|
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 |
52929606 (p.Leu12Leu),
|
non-synonymous substitutions |
52929598 (p.Val15Gly),
|
B6 transcript
(ENSMUST00000110031)
|
MAAAAPGALGALRTVGVRLVAACCARLGPAAWARGTAPRRGYSSEVKTEDELRVRHLEEE
NRGIVVLGINRAYGKNALSKNLLKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAVSFQLK
ADIQLCFQFAPFWWPLQSHSSQKPEVTPDSRCSPQIWA*
|
MSMv4 transcript
|
MAAAAPGALGALRTGGVRLVAACCARLGPAAWARGTAPRRGYSSEVKTEDELRVRHLEEE
NRGIVVLGINRAYGKNALSKNLLKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAVSFQLK
ADIQLCFQFAPFWWPLQSHSSQKPEVTPDSRCSPQIWA*
|
homology | 99.37 (159 / 159) |
|