Transcript #00019143

Transcript name solute carrier family 18 (vesicular monoamine), member 2
Gene name SLC18A2 (solute carrier family 18 (vesicular monoamine), member 2)
Chromosome 10
Transcript - NCBI ID NM_003054.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003045.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.204T>G benign r.(?) p.(=)
-?/. - c.329C>T likely benign r.(?) p.(Ala110Val)
?/. - c.583G>A VUS r.(?) p.(Gly195Ser)
-/. - c.597C>T benign r.(?) p.(=)
-/. - c.700+15C>T benign r.(=) p.(=)
-/. - c.700+15C>T benign r.(=) p.(=)
+/. - c.711del - r.(?) p.(Phe238Serfs*48)
?/. - c.728_729del VUS r.(?) p.(Tyr243*)
-/. - c.1122+20T>C benign r.(=) p.(=)
-/. - c.1122+20T>C benign r.(=) p.(=)
-/. - c.1186+11C>T benign r.(=) p.(=)
?/. - c.1537A>G VUS r.(?) p.(Ser513Gly)
-?/. - c.*6058A>G likely benign r.(=) p.(=)
Legend