Reports |
substitution |
cSNPs | 1 |
Insertion | 10 |
Deletion | 24 |
SNPs |
+1kb
3169262(c.-157A>G),
3169321(c.-216G>C),
3169536(c.-431C>T),
3169561(c.-456G>A),
3169857(c.-752T>C),
3169884(c.-779C>T),
3169946(c.-841G>A),
3170285(c.-1180A>G),
3170286(c.-1181A>C),
3170314(c.-1209T>C),
3170344(c.-1239T>G),
3170361(c.-1256A>G),
3170375(c.-1270A>C),
3170414(c.-1309T>C),
3170429(c.-1324C>G),
3170435(c.-1330T>C),
3170493(c.-1388A>T),
3170769(c.-1664C>T),
3170902(c.-1797A>G),
3171338(c.-2233T>C),
3171415(c.-2310G>C),
3171637(c.-2532C>T),
3171787(c.-2682C>A),
3171856(c.-2751T>C),
3171867(c.-2762T>C),
3172311(c.-3206G>C),
3172466(c.-3361A>G),
3172705(c.-3600C>A),
3172728(c.-3623G>T),
3173230(c.-4125C>T),
3173594(c.-4489C>G),
3174022(c.-4917C>T),
3174027(c.-4922C>G),
5'UTR
CDS
3'UTR
INTRON
3162374(c.494-14G>T),
3162479(c.494-119A>G),
3162515(c.494-155C>T),
3162848(c.494-488A>G),
3162854(c.494-494T>C),
3162968(c.494-608T>C),
3163101(c.494-741C>T),
3163839(c.493+54C>T),
3164405(c.92-111A>G),
3164440(c.92-146A>G),
3164505(c.92-211A>T),
3164598(c.92-304A>C),
3164618(c.92-324C>T),
3164764(c.92-470G>A),
3164765(c.92-471A>T),
3164850(c.92-556G>C),
3164948(c.92-654G>A),
3165441(c.92-1147A>G),
3166495(c.92-2201G>A),
3166616(c.92-2322T>C),
3166738(c.91+2277C>T),
3167885(c.91+1130G>A),
3168005(c.91+1010A>T),
3168455(c.91+560T>C),
3168497(c.91+518A>G),
3168625(c.91+390T>G),
3168778(c.91+237A>T),
-1kb
3157339(c.*4980T>G),
3157679(c.*4640A>G),
3157837(c.*4482C>T),
3157885(c.*4434T>G),
3158069(c.*4250T>C),
3158126(c.*4193C>T),
3158155(c.*4164G>A),
3159448(c.*2871C>T),
3159558(c.*2761C>T),
3159742(c.*2577C>T),
3159791(c.*2528G>A),
3159851(c.*2468A>G),
3159992(c.*2327G>A),
3160039(c.*2280G>A),
3160118(c.*2201C>A),
3160200(c.*2119C>T),
3160295(c.*2024T>G),
3160755(c.*1564A>G),
3160756(c.*1563C>T),
3161380(c.*939T>C),
3161415(c.*904C>A),
3161964(c.*355G>A),
3162048(c.*271T>C),
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
Deletions |
+1kb
3169305 (c.-205_-201delGAGAG),
3169818 (c.-715_-714delAT),
3170161 (c.-1059_-1057delAAC),
3170185 (c.-1083_-1081delAAC),
3170205 (c.-1105_-1101delAAAAA),
3170388 (c.-1284delG),
3171294 (c.-2191_-2190delTT),
3171522 (c.-2418delG),
3172258 (c.-3154delC),
3173305 (c.-4201delT),
5'UTR
CDS
3'UTR
INTRON
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 1 |
non-synonymous num | 0 |
synonymous substitutions |
3164217 (p.Arg57Arg),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000203937)
|
TLKNFQLLCSTDLELCPRNTSSTPGFHPVSEFGSLHQALKMLWQNLHQFGQKLVRRRPLA
ANEQSESSLSRCLTTLDLVSLGVGSTLGAGVYVLAGEVAREKAGPSIIICFLIAALSSVM
SGLCYAEFGARVPCSGSAYLYSYVTVGQLLAFITGWNLILNYVIGAASVARAWSAAFD
|
MSMv4 transcript
|
TLKNFQLLCSTDLELCPRNTSSTPGFHPVSEFGSLHQALKMLWQNLHQFGQKLVRRRPLA
ANEQSESSLSRCLTTLDLVSLGVGSTLGAGVYVLAGEVAREKAGPSIIICFLIAALSSVM
SGLCYAEFGARVPCSGSAYLYSYVTVGQLLAFITGWNLILNYVIGAASVARAWSAAFD
|
homology | 100.00 (178 / 178) |
|