Transcript #00009068 (NM_004963.3, GUCY2C gene)

Transcript name guanylate cyclase 2C (heat stable enterotoxin receptor)
Gene name GUCY2C (guanylate cyclase 2C (heat stable enterotoxin receptor))
Chromosome 12
Transcript - NCBI ID NM_004963.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004954.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.138C>T r.(?) p.(Ala46=)
-?/. - c.138C>T r.(?) p.(Ala46=)
?/. - c.378C>G r.(?) p.(Tyr126Ter)
+?/. 4 c.410T>C r.(?) p.(Leu137Ser)
-/. - c.612-16_612-15delinsA r.(=) p.(=)
-?/. - c.612-9C>T r.(=) p.(=)
-/. - c.843T>G r.(?) p.(Phe281Leu)
?/. - c.893C>T r.(?) p.(Thr298Met)
-?/. - c.1200C>T r.(?) p.(His400=)
?/. - c.1279C>T r.(?) p.(Arg427Trp)
+?/. - c.1737C>G r.(?) p.(Tyr579*)
-?/. - c.1917A>G r.(?) p.(Leu639=)
-?/. - c.1931-6T>C r.(=) p.(=)
?/. - c.1993A>G r.(?) p.(Ser665Gly)
+?/. 20 c.2008G>A r.(?) p.(Ala670Thr)
+?/. 20 c.2008G>A r.(?) p.(Ala670Thr)
-/. - c.2022C>T r.(?) p.(Ile674=)
-/. - c.2158-8dup r.(=) p.(=)
?/. - c.2300G>A r.(?) p.(Arg767His)
-?/. - c.2454A>G r.(?) p.(Glu818=)
?/. - c.2662del r.(?) p.(Arg888Glyfs*4)
+?/. 24 c.2782T>C r.(?) p.(Cys928Arg)
+?/. 24 c.2782T>C r.(?) p.(Cys928Arg)
?/. - c.3215A>G r.(?) p.(Tyr1072Cys)
-/. - c.*45494_*45496del r.(=) p.(=)
-?/. - c.*45497C>A r.(=) p.(=)
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