Transcript #00021696 (NM_000547.5, TPO gene)

Transcript name transcript variant 1
Gene name TPO (thyroid peroxidase)
Chromosome 2
Transcript - NCBI ID NM_000547.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000538.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

107 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.12C>G r.(?) p.(Leu4=)
-/. - c.12C>G r.(?) p.(Leu4=)
-/. - c.12C>G r.(?) p.(Leu4=)
-/. - c.30G>A r.(?) p.(Thr10=)
-/. - c.30G>A r.(?) p.(Thr10=)
?/. - c.38T>C r.(?) p.(Met13Thr)
-/. - c.94+20C>T r.(=) p.(=)
-/. - c.95-30G>A r.(=) p.(=)
-/. - c.95-21G>C r.(=) p.(=)
-/. - c.180-6C>A r.(=) p.(=)
?/. - c.208C>G r.(?) p.(Pro70Ala)
?/. - c.230C>T r.(?) p.(Ser77Phe)
?/. - c.347C>T r.(?) p.(Thr116Met)
-/. - c.404C>A r.(?) p.(Pro135His)
?/. - c.409A>C r.(?) p.(Met137Leu)
-/. - c.414G>C r.(?) p.(Leu138=)
-/. - c.426C>T r.(?) p.(Cys142=)
-/. - c.482+2409_482+2412del r.(=) p.(=)
+?/. - c.483-3C>G r.spl? p.?
-/. - c.612+15C>A r.(=) p.(=)
-/. - c.612+15C>T r.(=) p.(=)
-/. - c.660C>T r.(?) p.(Val220=)
-/. - c.717C>T r.(?) p.(His239=)
-/. - c.723C>T r.(?) p.(Ile241=)
-/. - c.769G>T r.(?) p.(Ala257Ser)
-/. - c.769G>T r.(?) p.(Ala257Ser)
-/. - c.769G>T r.(?) p.(Ala257Ser)
-/. - c.819+16C>T r.(=) p.(=)
-?/. - c.835C>T r.(?) p.(Arg279Trp)
-/. - c.840G>A r.(?) p.(Pro280=)
-/. - c.1032C>G r.(?) p.(Thr344=)
-/. - c.1117G>T r.(?) p.(Ala373Ser)
-/. - c.1117G>T r.(?) p.(Ala373Ser)
-/. - c.1117G>T r.(?) p.(Ala373Ser)
+/. - c.1184_1187dup r.(?) p.(Ala397Profs*76)
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76)
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76)
+/. - c.1184_1187dup r.(?) p.(Ala397ProfsTer76)
-/. - c.1193G>C r.(?) p.(Ser398Thr)
-/. - c.1193G>C r.(?) p.(Ser398Thr)
-/. - c.1193G>C r.(?) p.(Ser398Thr)
-?/. - c.1277C>A r.(?) p.(Ala426Glu)
?/. - c.1306G>C r.(?) p.(Glu436Gln)
+/. - c.1357T>G r.(?) p.(Tyr453Asp)
+?/. - c.1357T>G r.(?) p.(Tyr453Asp)
?/. - c.1429G>A r.(?) p.(Ala477Thr)
+/. - c.1472G>A r.(?) p.(Arg491His)
+/. - c.1477G>A r.(?) p.(Gly493Ser)
-/. - c.1539C>T r.(?) p.(Asp513=)
-/. - c.1566T>C r.(?) p.(Ala522=)
-/. - c.1585T>C r.(?) p.(Leu529=)
-?/. - c.1587A>C r.(?) p.(Leu529Phe)
-/. - c.1598-18G>A r.(=) p.(=)
-/. - c.1728G>A r.(?) p.(Ala576=)
+/. - c.1750C>T r.(?) p.(Arg584Trp)
?/. - c.1751G>A r.(?) p.(Arg584Gln)
-/. - c.1805G>A r.(?) p.(Arg602His)
-/. - c.1852G>A r.(?) p.(Val618Met)
-?/. - c.1857C>G r.(?) p.(Ala619=)
+?/. - c.1958T>C r.(?) p.(Phe653Ser)
-/. - c.1998C>T r.(?) p.(Asp666=)
-/. - c.1998C>T r.(?) p.(Asp666=)
-/. - c.2006+20G>A r.(=) p.(=)
-/. - c.2007-9_2007-7del r.(=) p.(=)
+/. - c.2077C>T r.(?) p.(Arg693Trp)
-/. - c.2116A>G r.(?) p.(Met706Val)
-?/. - c.2134G>A r.(?) p.(Gly712Ser)
-/. - c.2145C>T r.(?) p.(Pro715=)
-/. - c.2145C>T r.(?) p.(Pro715=)
-/. - c.2145C>T r.(?) p.(Pro715=)
-/. - c.2173A>C r.(?) p.(Thr725Pro)
-/. - c.2173A>C r.(?) p.(Thr725Pro)
-/. - c.2173A>C r.(?) p.(Thr725Pro)
-/. - c.2215+5A>C r.spl? p.?
-/. - c.2215+10G>A r.(=) p.(=)
-/. - c.2215+16C>T r.(=) p.(=)
?/. - c.2218_2220del r.(?) p.(Asp740del)
-/. - c.2242G>A r.(?) p.(Val748Met)
+/. - c.2268dup r.(?) p.(Glu757Ter)
-/. - c.2286C>T r.(?) p.(Arg762=)
-?/. - c.2305C>T r.(?) p.(Arg769Trp)
+?/. - c.2336A>C r.(?) p.(Gln779Pro)
+?/. - c.2337G>C r.(?) p.(Gln779His)
-/. - c.2386+8C>G r.(=) p.(=)
./. - c.2387-122G>T r.(=) p.(=)
./. - c.2387-122G>T r.(=) p.(=)
./. - c.2387-122G>T r.(=) p.(=)
-/. - c.2387-17C>T r.(=) p.(=)
-/. - c.2387-12T>C r.(=) p.(=)
+/. - c.2421dup r.(?) p.(Cys808Leufs*72)
+/. - c.2422del r.(?) p.(Cys808AlafsTer24)
+/. - c.2422del r.(?) p.(Cys808AlafsTer24)
-/. - c.2519-17C>G r.(=) p.(=)
-/. - c.2519-17C>T r.(=) p.(=)
-/. - c.2540T>C r.(?) p.(Val847Ala)
-/. - c.2540T>C r.(?) p.(Val847Ala)
-/. - c.2540T>C r.(?) p.(Val847Ala)
+/. - c.2578G>A r.(?) p.(Gly860Arg)
-?/. - c.2598C>T r.(?) p.(Thr866=)
-/. - c.2604G>A r.(?) p.(Thr868=)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »