Transcript #00008687 (NM_002076.3, GNS gene)

Transcript name glucosamine (N-acetyl)-6-sulfatase
Gene name GNS (glucosamine (N-acetyl)-6-sulfatase)
Chromosome 12
Transcript - NCBI ID NM_002076.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002067.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.5G>C r.(?) p.(Arg2Pro)
+/. - c.59_66del r.(?) p.(Pro20GlnfsTer84)
+/. - c.83del r.(?) p.(Leu28Argfs*37)
+/. - c.83del r.(?) p.(Leu28Argfs*37)
+/. - c.109dup r.(?) p.(Val37GlyfsTer70)
?/. - c.148G>A r.(?) p.(Val50Met)
-?/. - c.192+9T>G r.(=) p.(=)
-/. - c.192+2380G>A r.(=) p.(=)
-/. - c.198G>A r.(?) p.(Pro66=)
-/. - c.198G>A r.(?) p.(Pro66=)
-/. - c.198G>A r.(?) p.(Pro66=)
-/. - c.198G>A r.(?) p.(Pro66=)
-/. - c.253-10del r.(=) p.(=)
-/. - c.253-10del r.(=) p.(=)
-?/. - c.253-10del r.(=) p.(=)
-/. - c.253-10del r.(=) p.(=)
-/. - c.363G>A r.(?) p.(Lys121=)
-/. - c.363G>A r.(?) p.(Lys121=)
-/. - c.363G>A r.(?) p.(Lys121=)
+/. - c.411_412del r.(?) p.(Arg137SerfsTer16)
?/. - c.459+1G>A r.spl? p.?
-/. - c.459+14T>C r.(=) p.(=)
-/. - c.459+14T>C r.(=) p.(=)
-?/. - c.525+3G>A r.spl? p.?
?/. - c.577C>T r.(?) p.(Arg193Trp)
-?/. - c.688G>A r.(?) p.(Ala230Thr)
+/. - c.707C>A r.(?) p.(Ser236*)
?/. - c.791C>T r.(?) p.(Thr264Met)
-/. - c.792+16A>G r.(=) p.(=)
+/. - c.875+2del r.spl? p.?
+/. - c.875+2del r.spl? p.?
+/. - c.876-2A>G r.spl? p.?
+/. - c.876-2A>T r.(?) p.(?)
+/. - c.1097A>G r.(?) p.(Lys366Arg)
+/. - c.1097_1098+1delinsGGT r.spl? p.?
+/. - c.1139_1140insTTCTA r.(?) p.(Ile381SerfsTer8)
+/. - c.1162A>T r.(?) p.(Lys388Ter)
+/. - c.1231dup r.(?) p.(Asp411GlyfsTer12)
-?/. - c.1266C>T r.(?) p.(Asn422=)
+/. - c.1309-2A>G r.spl? p.?
-?/. - c.1326T>C r.(?) p.(Cys442=)
?/. - c.1355A>G r.(?) p.(Tyr452Cys)
-?/. - c.1419+8G>A r.(=) p.(=)
+/. - c.1420-2A>G r.spl? p.?
-?/. - c.1579G>A r.(?) p.(Gly527Arg)
-/. - c.1598G>A r.(?) p.(Arg533His)
-/. - c.1650T>C r.(?) p.(His550=)
-/. - c.1650T>C r.(?) p.(His550=)
-/. - c.1650T>C r.(?) p.(His550=)
-/. - c.*3dup r.(?) p.(=)
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