Transcript #00006382 (NM_021044.2, DHH gene)

Transcript name desert hedgehog
Gene name DHH (desert hedgehog)
Chromosome 12
Transcript - NCBI ID NM_021044.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_066382.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? 1_3 c.? r.(?) p.?
+/? 1 c.2T>C r.(?) p.0?
-?/. - c.25C>T r.(?) p.(Pro9Ser)
+/? 1 c.57_60dup r.(?) p.(Gln21Serfs*71)
?/. - c.80G>A r.(?) p.(Arg27Gln)
?/. - c.92G>C r.(?) p.(Gly31Ala)
-?/. - c.92G>C r.(?) p.(Gly31Ala)
?/. - c.134A>G r.(?) p.(Tyr45Cys)
?/. - c.188C>G r.(?) p.(Ala63Gly)
+/? 1 c.271_273del r.(?) p.(Glu91del)
+/? 2 c.427G>A r.(?) p.(Glu143Lys)
+/? 2 c.485T>C r.(?) p.(Leu162Pro)
+?/. - c.491G>C r.(?) p.(Arg164Pro)
?/. - c.508G>A r.(?) p.(Gly170Ser)
+?/. - c.508G>A r.(?) p.(Gly170Ser)
-/. - c.543C>T r.(?) p.(His181=)
?/. - c.543C>T r.(=) p.(=)
?/. - c.583C>T r.(?) p.(Arg195Trp)
?/. - c.616G>C r.(?) p.(Val206Leu)
-/. - c.651G>A r.(?) p.(Arg217=)
+?/. - c.680C>T r.(?) p.(Ala227Val)
+?/. - c.746G>A r.(?) p.(Arg249His)
+?/. - c.782C>T r.(?) p.(Pro261Leu)
+?/. - c.1058C>G r.(?) p.(Ala353Gly)
+/? 3 c.1086del r.(?) p.(Leu363Cysfs*4)
+/? 3 c.1086del r.(?) p.(Leu363Cysfs*4)
-?/. - c.1134T>A r.(?) p.(Thr378=)
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