Transcript #00023863 (NM_005629.3, SLC6A8 gene)

Transcript name transcript variant 1
Gene name SLC6A8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8)
Chromosome X
Transcript - NCBI ID NM_005629.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005620.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

425 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-243224_*649237dup r.0? p.0?
-/. - c.-5A>G r.(?) p.(=)
?/. 1i c.-5A>G r.(=) p.(=)
-/. - c.-5A>G r.(?) p.(=)
-/. - c.-5A>G r.(?) p.(=)
+/+ _1_13_ c.-1_*1del r.(?) p.0?
+/. - c.*1131_*1379{0} r.(?) p.(=)
+/. 4i_13_ c.778-36_*1379{0} r.? p.?
-/- 1 c.11A>G r.(?) p.(Lys4Arg)
-/- 1 c.11A>G r.(?) p.Lys4Arg
-/- 1 c.76G>A r.(?) p.Gly26Arg
-/- 1 c.76G>A r.(?) p.(Gly26Arg)
-?/. - c.87G>A r.(?) p.(Gly29=)
-?/. - c.87G>A r.(?) p.(Gly29=)
-?/. - c.89C>T r.(?) p.(Ala30Val)
-?/. - c.92C>T r.(?) p.(Pro31Leu)
+/+ 1 c.219del r.(?) p.(Asn74Thrfs*23)
+/+ 1 c.219del r.(?) p.(Asn74Thrfs*23)
+/+ 1 c.259G>A r.(?) p.Gly87Arg
+/+ 1 c.259G>A r.(?) p.(Gly87Arg)
+/+ 1i c.262_262+1delinsTT r.spl p.?
+/? 1i c.262+1G>T r.spl p.?
-/. 1i c.262+26T>C r.(=) p.(=)
-/- 1i c.262+26T>C r.(?) p.(=)
-?/-? 1i c.262+53G>C r.(?) p.(=)
-/- 1i c.262+65G>A r.(?) p.(=)
?/. 1i c.263-95G>A r.(=) p.(=)
-?/-? 1i c.263-95G>A r.(?) p.(=)
+/+ 1i c.263-2A>G r.263_325del p.Gly88_Leu108del
+/+ 1i c.263-2A>G r.263_325del p.Gly88_Leu108del
+/+ 1i c.263-1G>C r.263_325del p.Gly88_Leu108del
+/+ 2 c.291_292insAGGG r.(?) p.(Ala98Argfs*92)
-?/-? 2 c.306A>G r.(?) p.(=)
-?/. - c.306A>G r.(?) p.(Gly102=)
+/+ 2 c.321_323del r.(?) p.Phe107del
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/+ 2 c.321_323del r.(?) p.(Phe107del)
+/. - c.321_323del r.(?) p.(Phe107del)
-?/. - c.366T>C r.(?) p.(Asn122=)
?/+? 2 c.370T>C r.(?) p.(Trp124Arg)
?/+? 2 c.370T>C r.(?) p.(Trp124Arg)
?/+? 2 c.370T>C r.(?) p.(Trp124Arg)
-?/-? 2i c.394+52C>T r.(?) p.(=)
-?/-? 2i c.394+66C>A r.(?) p.(=)
-?/-? 2i c.394+72C>A r.(?) p.(=)
?/. 2i c.394+88G>A r.(=) p.(=)
?/. 2i c.394+88G>A r.(=) p.(=)
-/- 2i c.394+88G>A r.(?) p.(=)
-/- 2i c.394+88G>C r.(?) p.(=)
+?/+? 3 c.395G>T r.(?) p.(Gly132Val)
+?/+? 3 c.395G>T r.(?) p.(Gly132Val)
+?/+? 3 c.395G>T r.(?) p.(Gly132Val)
+?/+? 3 c.395G>T r.(?) p.(Gly132Val)
?/. - c.420C>T r.(?) p.(Ile140=)
+/+ 3 c.428_430del r.(?) p.(Tyr143del)
+/+ 3 c.428_430del r.(?) p.(Tyr143del)
+/+ 3 c.428_430del r.(?) p.(Tyr143del)
+/+ 3 c.462G>A r.(?) p.(Trp154*)
+/+ 3 c.467_469del r.(?) p.(Phe156del)
+/+ 3 c.467_469del r.(?) p.(Phe156del)
-?/-? 3 c.495C>T r.(?) p.(=)
-?/. - c.510C>T r.(?) p.(Ala170=)
-?/. - c.537C>T r.(?) p.(Pro179=)
+/. 3 c.541T>C r.(?) p.(Cys181Arg)
?/+? 3 c.541T>C r.(?) p.(Cys181Arg)
-?/. - c.544G>A r.(?) p.(Val182Met)
-/- 3 c.544G>A r.(?) p.(Val182Met)
-?/. - c.544G>A r.(?) p.(Val182Met)
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10)
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10)
+/. - c.570_571del r.(?) p.(Ala191GlnfsTer10)
-?/-? 3 c.603C>T r.(?) p.(=)
-?/. - c.617G>A r.(?) p.(Arg206His)
+/+ 3 c.619C>T r.(?) p.(Arg207Trp)
./. - c.644+2_644+3del r.spl? p.?
-?/. - c.644+9G>A r.(=) p.(=)
-?/-? 3i c.644+9G>A r.(?) p.(=)
+/. - c.645-1G>A r.spl? p.?
+/+ 4 c.676G>T r.(?) p.(Glu226*)
?/+? 4 c.729G>T r.(?) p.(Trp243Cys)
-?/-? 4i c.777+4C>T r.(?) p.(=)
-/. - c.777+4C>T r.spl? p.?
-?/. - c.777+4C>T r.spl? p.?
-/. - c.778-121T>C r.(=) p.(=)
?/. - c.778-8C>G r.(=) p.(=)
+/+ 4i c.778-2A>G r.spl p.?
+/+ 4i c.778-2A>G r.spl p.?
+/+ 4i c.778-2A>G r.spl p.?
-?/-? 5 c.780C>T r.(?) p.(=)
+/+ 5 c.786C>G r.(?) p.(Tyr262*)
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