Reports |
substitution |
cSNPs | 1 |
Insertion | 6 |
Deletion | 10 |
SNPs |
-1kb
47817143(c.-5000A>T),
47817201(c.-4942T>C),
47817517(c.-4626C>A),
47817519(c.-4624G>A),
47817525(c.-4618A>G),
47817726(c.-4417C>T),
47817907(c.-4236C>T),
47817978(c.-4165T>C),
47818029(c.-4114A>G),
47818044(c.-4099A>G),
47818074(c.-4069G>A),
47818079(c.-4064C>T),
47818105(c.-4038T>C),
47818142(c.-4001G>C),
47818241(c.-3902T>C),
47818264(c.-3879C>T),
47818280(c.-3863C>T),
47818286(c.-3857C>T),
47818288(c.-3855C>T),
47818334(c.-3809T>C),
47818347(c.-3796A>C),
47818372(c.-3771T>C),
47818681(c.-3462C>T),
47818766(c.-3377A>G),
47818794(c.-3349G>T),
47818799(c.-3344T>G),
47819424(c.-2719T>C),
47820264(c.-1879G>A),
47820440(c.-1703G>A),
47820463(c.-1680T>G),
47820498(c.-1645G>A),
47821517(c.-626G>T),
5'UTR
CDS
3'UTR
INTRON
+1kb
47822986(c.*181T>G),
47823253(c.*448C>T),
47823884(c.*1079C>A),
47823885(c.*1080G>C),
47824019(c.*1214G>A),
47825059(c.*2254G>A),
47825117(c.*2312A>G),
47825134(c.*2329G>A),
47825139(c.*2334C>T),
47825486(c.*2681T>C),
47825598(c.*2793A>C),
47825600(c.*2795G>A),
47825634(c.*2829G>A),
47825672(c.*2867A>C),
47825673(c.*2868C>A),
47825675(c.*2870C>T),
47825750(c.*2945A>G),
47825811(c.*3006T>C),
47826011(c.*3206C>G),
47827289(c.*4484G>A),
47827312(c.*4507A>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 | 0 |
non-synonymous num | 1 |
synonymous substitutions |
|
non-synonymous substitutions |
47822747 (p.Ala202Val),
|
B6 transcript
(ENSMUST00000079639)
|
MAFIFRTAMQSVGLSLSLLGWVLAIITTYLPHWKNLNLELNEMENWTMGLWKSCVIQEEV
GRQCKDFDSFLALPAELQVSRVLMSLCNGLGLLGLLASGCGLDCLRLGETQEGLKKRLLT
LGGTLLWTSGVMVLVPVSWVAHKTVREFWDETMPEIVPRWEFGEALFLGWFAGFCLVLGG
CVLHCAACSSPAPAASSHYAGAGPRDHGSYLENGTVQPKV*
|
MSMv4 transcript
|
MAFIFRTAMQSVGLSLSLLGWVLAIITTYLPHWKNLNLELNEMENWTMGLWKSCVIQEEV
GRQCKDFDSFLALPAELQVSRVLMSLCNGLGLLGLLASGCGLDCLRLGETQEGLKKRLLT
LGGTLLWTSGVMVLVPVSWVAHKTVREFWDETMPEIVPRWEFGEALFLGWFAGFCLVLGG
CVLHCAACSSPAPAASSHYAGVGPRDHGSYLENGTVQPKV*
|
homology | 99.55 (221 / 221) |
|