| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 12 |
| Deletion | 14 |
| SNPs |
-1kb
49578008(c.-11468T>A),
49578105(c.-11371T>C),
49578198(c.-11278A>T),
49578295(c.-11181T>C),
49578823(c.-10653A>G),
49578907(c.-10569T>C),
49579187(c.-10289C>T),
49579631(c.-9845C>T),
49579785(c.-9691A>G),
49579829(c.-9647G>A),
49579850(c.-9626G>A),
49580326(c.-9150C>T),
49580431(c.-9045A>G),
49580539(c.-8937G>A),
49580668(c.-8808C>T),
49580686(c.-8790C>T),
49580828(c.-8648C>T),
49581258(c.-8218C>T),
49581585(c.-7891G>A),
49582168(c.-7308T>A),
49582208(c.-7268C>G),
49582554(c.-6922C>A),
5'UTR
CDS
3'UTR
INTRON
49582898(c.-15+85A>T),
49583202(c.-15+389T>A),
49583317(c.-15+504C>T),
49583353(c.-15+540T>C),
49583933(c.-15+1120A>G),
49584195(c.-15+1382C>T),
49584542(c.-15+1729C>T),
49584552(c.-15+1739C>T),
49584602(c.-15+1789C>T),
49584767(c.-15+1954C>A),
49584824(c.-15+2011A>C),
49584980(c.-15+2167T>A),
49585471(c.-15+2658A>G),
49586202(c.-14-3260T>A),
49586417(c.-14-3045A>T),
49586560(c.-14-2902A>T),
49586668(c.-14-2794G>A),
49586726(c.-14-2736G>T),
49586750(c.-14-2712C>G),
49586921(c.-14-2541T>C),
49586987(c.-14-2475G>A),
49587029(c.-14-2433A>G),
49587197(c.-14-2265G>C),
49587280(c.-14-2182G>A),
49587548(c.-14-1914T>C),
49587925(c.-14-1537G>A),
49587950(c.-14-1512T>C),
49588153(c.-14-1309C>T),
49588196(c.-14-1266C>T),
49588542(c.-14-920T>C),
49588662(c.-14-800A>G),
49588802(c.-14-660A>C),
49588880(c.-14-582A>C),
49589255(c.-14-207C>T),
49589332(c.-14-130G>A),
49590428(c.940+13T>A),
49591810(c.941-246G>A),
49591892(c.941-164A>G),
+1kb
49592634(c.*247C>A),
49592710(c.*323T>A),
49592731(c.*344C>T),
49593009(c.*622C>T),
49593015(c.*628C>T),
49593160(c.*773G>A),
49593240(c.*853C>A),
49593247(c.*860G>A),
49593254(c.*867C>A),
49593317(c.*930G>T),
49593324(c.*937C>T),
49593466(c.*1079G>A),
49593516(c.*1129C>A),
49593665(c.*1278G>A),
49593782(c.*1395T>C),
49593807(c.*1420C>A),
49593827(c.*1440G>C),
49594064(c.*1677C>T),
|
| 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 |
49589886 (p.Phe137Phe),
|
| non-synonymous substitutions |
49590002 (p.Ile176Thr),
|
B6 transcript
(ENSMUST00000065494)
|
MGFLSPIYVLFFCFGVRVYCQYEAYRWDDDYDQEPNEDYDPEFQFHQNIEYGVPFYNNIL
GCAKECFCPTNFPTSMYCDNRKLKTIPIIPMHIQQLNLQFNDIEAVTANSFINATHLKEI
NLSHNKIKSQKIDYGVFAKLSNLQQLHLEHNNLEEFPFPLPKSLERLLLGYNEISILPTN
AMDGLVNVTMLDLCYNHLSDSMLKEKTLSKMEKLMQLNLCNNRLESMPLGLPSSLMYLSL
ENNSISSIPDNYFDKLPKLHALRISHNKLEDIPYDIFNLSNLIELNVGHNKLKQAFYIPR
NLEHLYLQNNEIESINVTMICPSPDPVHHHHLTYLRVDQNKLKEPISSYIFFCFPRIHSI
YYGEQRSTNGETIQLKTQVFRSYQEEEEEDDHDSQDNTLEGQEVSDEHYNSHYYEMQEWQ
DTI*
|
|
MSMv4 transcript
|
MGFLSPIYVLFFCFGVRVYCQYEAYRWDDDYDQEPNEDYDPEFQFHQNIEYGVPFYNNIL
GCAKECFCPTNFPTSMYCDNRKLKTIPIIPMHIQQLNLQFNDIEAVTANSFINATHLKEI
NLSHNKIKSQKIDYGVFAKLSNLQQLHLEHNNLEEFPFPLPKSLERLLLGYNEISTLPTN
AMDGLVNVTMLDLCYNHLSDSMLKEKTLSKMEKLMQLNLCNNRLESMPLGLPSSLMYLSL
ENNSISSIPDNYFDKLPKLHALRISHNKLEDIPYDIFNLSNLIELNVGHNKLKQAFYIPR
NLEHLYLQNNEIESINVTMICPSPDPVHHHHLTYLRVDQNKLKEPISSYIFFCFPRIHSI
YYGEQRSTNGETIQLKTQVFRSYQEEEEEDDHDSQDNTLEGQEVSDEHYNSHYYEMQEWQ
DTI*
|
| homology | 99.76 (424 / 424) |
|