Transcript #00019036 (NM_001044.4, SLC6A3 gene)

Transcript name solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Gene name SLC6A3 (solute carrier family 6 (neurotransmitter transporter, dopamine), member 3)
Chromosome 5
Transcript - NCBI ID NM_001044.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001035.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

75 entries on 1 page. Showing entries 1 - 75.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.39C>T r.(?) p.(Ser13=)
?/. - c.58G>T r.(?) p.(Glu20Ter)
?/. - c.59A>T r.(?) p.(Glu20Val)
?/. - c.77C>T r.(?) p.(Pro26Leu)
-/. - c.114C>T r.(?) p.(Asn38=)
-?/. - c.114C>T r.(?) p.(Asn38=)
?/. - c.137_145del r.(?) p.(Thr46_Thr48del)
-/. - c.150G>T r.(?) p.(Pro50=)
-/. - c.162C>T r.(?) p.(Pro54=)
-?/. - c.162C>T r.(?) p.(Pro54=)
-?/. - c.162C>T r.(?) p.(Pro54=)
-?/. - c.216C>T r.(?) p.(Ser72=)
-?/. - c.286+20C>G r.(=) p.(=)
?/. - c.361G>A r.(?) p.(Gly121Ser)
+/+ 3 c.399del r.(?) p.(Ile134Serfs*5)
-/. - c.419-12C>A r.(=) p.(=)
-/. - c.419-12C>A r.(=) p.(=)
-?/. - c.456C>T r.(?) p.(Val152=)
+/+ 4 c.472G>T r.(?) p.(Val158Phe)
-?/. - c.499C>T r.(?) p.(Leu167Phe)
-?/. - c.499C>T r.(?) p.(Leu167Phe)
-?/. - c.546C>T r.(?) p.(Asn182=)
-?/. - c.546C>T r.(?) p.(Asn182=)
-?/. - c.546C>T r.(?) p.(Asn182=)
?/. - c.569C>T r.(?) p.(Ser190Leu)
-?/. - c.614A>G r.(?) p.(Asn205Ser)
-/. - c.653+13C>T r.(=) p.(=)
+/+ 5 c.671T>C r.(?) p.(Leu224Pro)
?/. - c.710G>A r.(?) p.(Arg237Gln)
?/. - c.774C>T r.(?) p.(Gly258=)
-?/. - c.810C>T r.(?) p.(Ala270=)
?/. - c.823G>A r.(?) p.(Val275Met)
-?/. - c.900T>C r.(?) p.(Val300=)
+/+ 7 c.979G>A r.(?) p.(Gly327Arg)
-?/. - c.990C>T r.(?) p.(Ile330=)
+/+ 7i c.1031+1G>A r.spl p.?
-/. - c.1035C>T r.(?) p.(Asp345=)
-/. - c.1035C>T r.(?) p.(Asp345=)
-?/. - c.1038G>A r.(?) p.(Ala346=)
-?/. - c.1068G>A r.(?) p.(Thr356=)
-?/. - c.1089C>T r.(?) p.(Val363=)
+/+ 8 c.1103T>A r.(?) p.(Leu368Gln)
-?/. - c.1137C>T r.(?) p.(Ile379=)
+?/. 8 c.1139_1150del r.(?) p.(Gly380_Lys384delinsGlu)
-?/. - c.1143C>T r.(?) p.(Asp381=)
-?/. - c.1155C>T r.(?) p.(Asp385=)
+/+ 8i c.1156+5del r.spl p.?
-?/. - c.1156+9C>T r.(=) p.(=)
+/+ 9 c.1184C>T r.(?) p.(Pro395Leu)
-?/. - c.1194C>T r.(?) p.(Ile398=)
-/. - c.1215A>G r.(?) p.(Ser405=)
-/. - c.1215A>G r.(?) p.(Ser405=)
+?/. - c.1269+1G>T r.spl p.?
-?/. - c.1269+12G>A r.(=) p.(=)
+/+ 10 c.1315C>T r.(?) p.(Gln439*)
-?/. - c.1398C>T r.(?) p.(Asn466=)
-?/. - c.1398C>T r.(?) p.(Asn466=)
?/. - c.1407C>G r.(?) p.(Ile469Met)
-?/. - c.1413C>G r.(?) p.(Val471=)
-/. - c.1498+14A>G r.(=) p.(=)
-/. - c.1498+14A>G r.(=) p.(=)
-/. - c.1498+14A>G r.(=) p.(=)
+/+ 11i c.1502_1767+3del r.spl? p.(Gly500Glufs*13)
+/+ 12 c.1561C>T r.(?) p.(Arg521Trp)
+/+ 12 c.1586C>T r.(?) p.(Pro529Leu)
-?/. - c.1600-8G>T r.(=) p.(=)
+/+ 13 c.1661C>T r.(?) p.(Pro554Leu)
?/. - c.1676C>T r.(?) p.(Ala559Val)
?/? 13 c.1676C>T r.(?) p.(Ala559Val)
-/. - c.1731C>T r.(?) p.(Ala577=)
-?/. - c.1763G>A r.(?) p.(Arg588Gln)
-?/. - c.1767+13A>G r.(=) p.(=)
-?/. - c.1840-4C>A r.spl? p.?
-?/. - c.1844G>A r.(?) p.(Arg615His)
?/. - c.1857G>C r.(?) p.(Lys619Asn)
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