Transcript #00019038 (NM_004211.3, SLC6A5 gene)

Transcript name solute carrier family 6 (neurotransmitter transporter, glycine), member 5
Gene name SLC6A5 (solute carrier family 6 (neurotransmitter transporter, glycine), member 5)
Chromosome 11
Transcript - NCBI ID NM_004211.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004202.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-91A>G r.(?) p.(=)
-?/. - c.59C>T r.(?) p.(Ala20Val)
-?/. - c.96C>T r.(?) p.(Pro32=)
-?/. - c.123C>A r.(?) p.(Pro41=)
-?/. - c.266C>A r.(?) p.(Ala89Glu)
-/. - c.266C>A r.(?) p.(Ala89Glu)
-/. - c.266C>A r.(?) p.(Ala89Glu)
-/. - c.304G>A r.(?) p.(Gly102Ser)
-/. - c.336C>T r.(?) p.(Ser112=)
-/. - c.336C>T r.(?) p.(Ser112=)
-/. - c.352C>T r.(?) p.(Leu118=)
-/. - c.352C>T r.(?) p.(Leu118=)
-/. - c.371T>C r.(?) p.(Phe124Ser)
-?/. - c.395C>G r.(?) p.(Ala132Gly)
-/. - c.485C>G r.(?) p.(Ala162Gly)
-?/. - c.500C>A r.(?) p.(Thr167Lys)
+?/. 3i c.679+2T>C r.spl p.?
-?/. - c.811+16C>T r.(=) p.(=)
?/. - c.1046C>T r.(?) p.(Thr349Ile)
-?/. - c.1046C>T r.(?) p.(Thr349Ile)
-/. - c.1230A>G r.(?) p.(Ser410=)
?/. - c.1277C>G r.(?) p.(Ala426Gly)
-/. - c.1371G>C r.(?) p.(Lys457Asn)
-/. - c.1387G>A r.(?) p.(Asp463Asn)
-/. - c.1496A>T r.(?) p.(Tyr499Phe)
?/. - c.1627C>T r.(?) p.(Pro543Ser)
-?/. - c.1738-8_1738-7del r.(=) p.(=)
+?/. - c.1806G>T r.(?) p.(Lys602Asn)
-?/. - c.1863C>T r.(?) p.(Ile621=)
?/. - c.1910C>G r.(?) p.(Ala637Gly)
-?/. - c.2070C>T r.(?) p.(Thr690=)
-/. - c.2070C>T r.(?) p.(Thr690=)
-/. - c.2071-3C>A r.spl? p.?
-/. - c.2103G>A r.(?) p.(Glu701=)
-/. - c.2103G>A r.(?) p.(Glu701=)
-?/. - c.2114A>G r.(?) p.(Tyr705Cys)
-?/. - c.2114A>G r.(?) p.(Tyr705Cys)
-/. - c.2239-6T>C r.(=) p.(=)
-?/. - c.2290C>G r.(?) p.(Gln764Glu)
-/. - c.2299G>A r.(?) p.(Gly767Arg)
-/. - c.2299G>A r.(?) p.(Gly767Arg)
-?/. - c.2299G>A r.(?) p.(Gly767Arg)
-?/. - c.2306G>A r.(?) p.(Arg769His)
-?/. - c.2306G>A r.(?) p.(Arg769His)
-?/. - c.2366A>G r.(?) p.(Lys789Arg)
-/. - c.*3C>T r.(=) p.(=)
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