Transcript #00025300 (NM_003896.3, ST3GAL5 gene)

Transcript name transcript variant 1
Gene name ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)
Chromosome 2
Transcript - NCBI ID NM_003896.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003887.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2018-07-18 08:32:54 +02:00 (CEST)
Date last edited N/A


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.37C>T r.(?) p.(Pro13Ser)
-?/. - c.70C>T r.(?) p.(Pro24Ser)
+/. - c.207-1G>T r.(207_318del) p.(Cys70Glufs*81)
+/. - c.221T>A r.(?) p.(Val74Glu)
+/. - c.221T>A r.(?) p.(Val74Glu)
+/. - c.221T>A r.(?) p.(Val74Glu)
+?/. - c.282del r.(?) p.(Met94IlefsTer12)
?/. - c.318+1dup r.spl? p.?
?/. - c.336dup r.(?) p.(Gln113SerfsTer22)
-?/. - c.390G>A r.(?) p.(Ala130=)
-?/. - c.415G>A r.(?) p.(Val139Met)
?/. - c.479C>A r.(?) p.(Pro160His)
+/. 4 c.584G>C r.(?) p.(Cys195Ser)
+/. 4 c.601G>A r.(?) p.(Gly201Arg)
-?/. - c.648C>T r.(?) p.(Phe216=)
-?/. - c.662+18_662+19del r.(=) p.(=)
+/. - c.737A>G r.(?) p.(Glu246Gly)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
+?/. 5 c.740G>A r.(?) p.(Gly247Asp)
+?/. - c.740G>A r.(?) p.(Gly247Asp)
-?/. - c.850-5C>T r.spl? p.?
+/. - c.862C>T r.(?) p.(Arg288*)
+/. 6 c.862C>T r.(?) p.(Arg288*)
+/. - c.862C>T r.(?) p.(Arg288Ter)
+?/. - c.862C>T r.(?) p.(Arg288Ter)
+/. 6 c.862C>T r.(?) p.(Arg288*)
+/. 6 c.862C>T r.(?) p.(Arg288*)
+/. - c.1000C>T r.(?) p.(Arg334Ter)
+/. - c.1000C>T r.(?) p.(Arg334Ter)
+/. - c.1000del r.(?) p.(Arg334Glufs*15)
+/. - c.1000del r.(?) p.(Arg334Glufs*15)
+/. - c.1000del r.(?) p.(Arg334Glufs*15)
+/. - c.1024G>A r.(?) p.(Gly342Ser)
+/. 7 c.1024G>A r.(?) p.(Gly342Ser)
+/. - c.1030_1031del r.(?) p.(Ile344Cysfs*11)
+/. - c.1060G>A r.(?) p.(Asp354Asn)
+/. - c.1063G>A r.(?) p.(Glu355Lys)
+/. 7 c.1063G>A r.(?) p.(Glu355Lys)
+?/. - c.1121A>G r.(?) p.(Tyr374Cys)
+?/. - c.1165C>G r.(?) p.(His389Asp)
+/. - c.1166A>G r.(?) p.(His389Arg)
+?/. - c.1166A>G r.(?) p.(His389Arg)
+?/. - c.1166A>G r.(?) p.(His389Arg)
+?/. - c.1166A>G r.(?) p.(His389Arg)
+/. - c.1214dup r.(?) p.(Val406Serfs*10)
+/. - c.1214dup r.(?) p.(Val406Serfs*10)
-?/. - c.1247G>T r.(?) p.(Arg416Leu)
+?/. - c.1255T>C r.(?) p.(Ter419ArgextTer38)
+?/. - c.1255T>C r.(?) p.(Ter419ArgextTer38)
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