Transcript #00020044 (NM_000346.3, SOX9 gene)

Transcript name SRY (sex determining region Y)-box 9
Gene name SOX9 (SRY (sex determining region Y)-box 9)
Chromosome 17
Transcript - NCBI ID NM_000346.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000337.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1 c.-787000_-600000dup r.? p.?
-?/. - c.76A>G r.(?) p.(Met26Val)
-?/. - c.283G>C r.(?) p.(Val95Leu)
+/. - c.333del r.(?) p.(Phe112SerfsTer35)
+/. - c.336C>A r.(?) p.(Phe112Leu)
+?/. - c.356C>A r.(?) p.(Ala119Glu)
+/. - c.429G>T r.(?) p.(Trp143Cys)
+?/. 1i c.432-2A>T r.spl p.?
+?/. - c.453G>C r.(?) p.(Lys151Asn)
+/. - c.460T>C r.(?) p.(Phe154Leu)
+/. - c.475_485del r.(?) p.(Glu159Argfs*89)
?/. - c.476A>G r.(?) p.(Glu159Gly)
-/. - c.507C>T r.(?) p.(His169=)
-/. - c.507C>T r.(?) p.(His169=)
-/. - c.507C>T r.(?) p.(His169=)
+?/. - c.508C>G r.(?) p.(Pro170Ala)
+/. - c.523C>T r.(?) p.(Gln175Ter)
+/. - c.527C>T r.(?) p.(Pro176Leu)
?/. - c.685+5G>A r.spl? p.?
-?/. - c.685+7C>T r.(=) p.(=)
-/. - c.685+8G>A r.(=) p.(=)
-?/. - c.685+8G>A r.(=) p.(=)
-?/. - c.685+8G>A r.(=) p.(=)
?/. - c.706A>C r.(?) p.(Thr236Pro)
-?/. - c.706A>C r.(?) p.(Thr236Pro)
-/. - c.710dup r.(?) p.(Pro238ThrfsTer14)
-?/. - c.710dup r.(?) p.(Pro238ThrfsTer14)
-/. - c.711A>C r.(?) p.(Pro237=)
-/. - c.711A>C r.(?) p.(Pro237=)
-/. - c.715A>C r.(?) p.(Thr239Pro)
-?/. - c.715A>C r.(?) p.(Thr239Pro)
-/. - c.717C>T r.(?) p.(Thr239=)
-/. - c.718A>C r.(?) p.(Thr240Pro)
-?/. - c.718A>C r.(?) p.(Thr240Pro)
-?/. - c.724A>C r.(?) p.(Lys242Gln)
+/. - c.737del r.(?) p.(Gln246ArgfsTer7)
?/. - c.784G>C r.(?) p.(Gly262Arg)
+?/. - c.816_817insTCCGTGAC r.(?) p.(Val273Serfs*9)
?/. - c.844G>T r.(?) p.(Val282Phe)
+?/. - c.958_962dup r.(?) p.(Ile321MetfsTer64)
?/. - c.974C>T r.(?) p.(Ala325Val)
-?/. - c.993G>A r.(?) p.(Ala331=)
-?/. - c.994G>A r.(?) p.(Gly332Ser)
+/. - c.1042C>T r.(?) p.(Gln348*)
?/. - c.1045C>T r.(?) p.(Pro349Ser)
-/. - c.1113G>A r.(?) p.(Ala371=)
-/. - c.1113G>A r.(?) p.(Ala371=)
+/. - c.1123C>T r.(?) p.(Gln375Ter)
-/. - c.1167G>A r.(?) p.(Pro389=)
+/. - c.1180C>T r.(?) p.(Arg394Ter)
+/. - c.1296C>A r.(?) p.(Tyr432*)
+?/. - c.1315C>T r.(?) p.(Gln439Ter)
-?/. - c.1320C>T r.(?) p.(Tyr440=)
-?/. - c.1321G>A r.(?) p.(Asp441Asn)
?/. - c.1421G>T r.(?) p.(Arg474Leu)
+?/. - c.1428del r.(?) p.(Met476IlefsTer47)
?/. - c.1438A>C r.(?) p.(Ile480Leu)
-/. - c.*23A>C r.(=) p.(=)
Legend   How to query