| Reports |
|---|
| substitution |
|---|
| cSNPs | 3 |
|---|
| Insertion | 9 |
|---|
| Deletion | 19 |
|---|
| SNPs |
+1kb
36439749(c.-83C>T),
36439902(c.-236A>G),
36439950(c.-284A>G),
36440083(c.-417A>G),
36440463(c.-797T>A),
36440729(c.-1063G>C),
36441088(c.-1422T>G),
36441101(c.-1435T>C),
36441159(c.-1493T>A),
36441190(c.-1524G>C),
36441218(c.-1552C>T),
36443457(c.-3791C>T),
36443551(c.-3885A>G),
36443750(c.-4084A>C),
36443839(c.-4173A>C),
36443863(c.-4197A>C),
36443929(c.-4263T>A),
36443987(c.-4321T>C),
36444340(c.-4674T>C),
36444375(c.-4709A>G),
36444415(c.-4749C>A),
36444648(c.-4982G>A),
36444660(c.-4994G>A),
- 5'UTR
- CDS
- 3'UTR
- INTRON
36420190(c.539-155C>A),
36420470(c.539-435G>T),
36420659(c.539-624A>T),
36421122(c.539-1087G>C),
36421201(c.539-1166G>C),
36421906(c.539-1871T>C),
36421916(c.539-1881C>T),
36422182(c.539-2147T>C),
36422185(c.539-2150G>A),
36422193(c.539-2158A>G),
36422209(c.539-2174G>A),
36422217(c.539-2182A>G),
36422575(c.538+2263C>T),
36423672(c.538+1166T>C),
36423994(c.538+844G>A),
36424072(c.538+766T>C),
36424181(c.538+657G>A),
36424562(c.538+276C>A),
36424701(c.538+137T>C),
36424737(c.538+101A>T),
36424800(c.538+38G>A),
36424963(c.419-6C>A),
36425221(c.419-264T>C),
36425317(c.419-360G>A),
36425538(c.419-581G>A),
36425539(c.419-582T>C),
36425644(c.419-687T>C),
36425724(c.419-767G>A),
36425796(c.419-839T>C),
36425846(c.419-889C>T),
36425926(c.419-969C>G),
36425982(c.419-1025T>C),
36426023(c.419-1066A>G),
36426033(c.419-1076G>C),
36426261(c.419-1304T>C),
36426287(c.419-1330G>C),
36426382(c.419-1425G>T),
36426553(c.418+1549T>C),
36426761(c.418+1341C>A),
36426785(c.418+1317T>A),
36426829(c.418+1273A>G),
36426947(c.418+1155T>C),
36427160(c.418+942G>A),
36427368(c.418+734T>C),
36427481(c.418+621A>T),
36427500(c.418+602C>T),
36427511(c.418+591C>T),
36427603(c.418+499C>T),
36427649(c.418+453G>A),
36427650(c.418+452A>C),
36427763(c.418+339C>T),
36427977(c.418+125T>C),
36429552(c.142-1091G>A),
36430232(c.142-1771G>A),
36430239(c.142-1778A>G),
36430555(c.142-2094A>G),
36431575(c.142-3114T>C),
36432531(c.142-4070T>C),
36432717(c.142-4256G>C),
36432719(c.142-4258A>C),
36432791(c.142-4330C>T),
36432793(c.142-4332G>A),
36432896(c.142-4435T>C),
36432910(c.142-4449T>C),
36432945(c.142-4484G>A),
36433056(c.142-4595A>G),
36433083(c.142-4622A>G),
36433249(c.142-4788T>G),
36433599(c.142-5138C>T),
36433766(c.141+4984T>C),
36433908(c.141+4842T>C),
36434235(c.141+4515T>C),
36434250(c.141+4500T>C),
36434276(c.141+4474G>T),
36434289(c.141+4461G>A),
36434297(c.141+4453A>G),
36434335(c.141+4415A>G),
36434337(c.141+4413A>G),
36434691(c.141+4059G>T),
36434934(c.141+3816C>T),
36435064(c.141+3686A>G),
36435071(c.141+3679T>C),
36435087(c.141+3663C>T),
36435140(c.141+3610T>A),
36435253(c.141+3497C>T),
36435396(c.141+3354G>T),
36435697(c.141+3053G>A),
36435782(c.141+2968T>C),
36435803(c.141+2947G>A),
36436006(c.141+2744A>G),
36436059(c.141+2691A>G),
36436106(c.141+2644A>G),
36436166(c.141+2584T>A),
36436297(c.141+2453A>T),
36436471(c.141+2279T>C),
36436572(c.141+2178A>C),
36436630(c.141+2120G>A),
36436798(c.141+1952C>T),
36436856(c.141+1894A>G),
36436861(c.141+1889C>G),
36437086(c.141+1664C>T),
36437281(c.141+1469G>A),
36437291(c.141+1459G>A),
36437367(c.141+1383G>A),
36437565(c.141+1185G>A),
36437566(c.141+1184A>G),
36437863(c.141+887A>G),
36437880(c.141+870C>T),
36437900(c.141+850A>G),
36437968(c.141+782G>A),
36437996(c.141+754G>C),
36438004(c.141+746T>C),
36438194(c.141+556G>A),
36438417(c.141+333C>T),
36438493(c.141+257T>A),
36438681(c.141+69G>A),
36438684(c.141+66G>C),
36438704(c.141+46T>C),
36438717(c.141+33T>C),
36438840(c.59-8C>T),
36439089(c.59-257A>G),
36439540(c.58+69G>A),
-
-1kb
36415278(c.*4681T>C),
36415362(c.*4597G>A),
36415855(c.*4104G>A),
36415856(c.*4103T>C),
36415869(c.*4090G>A),
36415952(c.*4007T>C),
36416020(c.*3939G>C),
36416215(c.*3744G>A),
36416222(c.*3737C>T),
36416541(c.*3418G>A),
36416703(c.*3256G>A),
36416753(c.*3206G>A),
36417124(c.*2835C>T),
36417212(c.*2747T>C),
36417281(c.*2678A>G),
36417999(c.*1960G>A),
36418089(c.*1870T>C),
36418107(c.*1852C>T),
36418388(c.*1571T>C),
36418422(c.*1537A>G),
36418443(c.*1516C>T),
36418621(c.*1338C>T),
36418858(c.*1101T>C),
36418861(c.*1098G>A),
36418937(c.*1022C>A),
36419398(c.*561T>C),
36419399(c.*560A>C),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
36422019 (c.539-1986_539-1985delAG),
36423785 (c.538+1050_538+1052delCTC),
36425199 (c.419-245_419-243delTTT),
36427001 (c.418+1099_418+1100delAA),
36430157 (c.142-1705_142-1697delCCAATGACT),
36431719 (c.142-3260_142-3259delTT),
36431733 (c.142-3280_142-3273delATATATAT),
36431976 (c.142-3521_142-3516delGTTTTT),
36432539 (c.142-4079delA),
36432889 (c.142-4429delC),
36434760 (c.141+3985_141+3989delTTTTT),
36436215 (c.141+2534delA),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 2 |
|---|
| non-synonymous num | 1 |
|---|
| synonymous substitutions |
36428169 (p.Glu117Glu),
36428426 (p.Asn59Asn),
|
|---|
| non-synonymous substitutions |
36419991 (p.Thr195Ala),
|
|---|
B6 transcript
(ENSMUST00000192969)
|
KNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQHERVFPYISAMVNNG
SLSYDHERDGRPTELGGCTAIVRNIRYDTFLVIRYVKRHLTIMMDIDGKHEWRDCIEMPG
VRLPRGYYFGTSSITGDLSDNHDVISLKLFELTGVRTPEEEKLHRDVFLPSVDNLKLPES
LLDQVHFSCAPDDTTQLVPAATVL*
|
|
MSMv4 transcript
|
KNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQHERVFPYISAMVNNG
SLSYDHERDGRPTELGGCTAIVRNIRYDTFLVIRYVKRHLTIMMDIDGKHEWRDCIEMPG
VRLPRGYYFGTSSITGDLSDNHDVISLKLFELTGVRTPEEEKLHRDVFLPSVDNLKLPES
LLDQVHFSCAPDDTAQLVPAATVL*
|
| homology | 99.51 (205 / 205) |
|---|
|
