Transcript #00019155 (NM_003060.3, SLC22A5 gene)

Transcript name solute carrier family 22 (organic cation/carnitine transporter), member 5
Gene name SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5)
Chromosome 5
Transcript - NCBI ID NM_003060.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003051.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

198 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-7877141_*13987321dup - -
+/. - c.-56260T>A r.(?) p.(=)
-?/. - c.-35200T>C r.(?) p.(=)
?/. - c.-34150_-34148del r.(?) p.(=)
-?/. - c.-34036G>A r.(?) p.(=)
?/? 1 c.-207C r.(?) p.(=)
+/? 1 c.-207C r.(?) p.(=)
+/. 1 c.-149G>A r.(?) p.(=)
+/. 1 c.-91_22del r.(?) p.0?
+/? 1 c.-91_22del r.(?) p.?
+/? 1 c.-78C>T r.(?) p.(=)
+/? 1 c.-77G>A r.(?) p.(=)
+/? 1 c.3G>T r.(?) p.(Met1?)
+/. - c.4dup r.(?) p.(Arg2Profs*136)
+/? 1 c.4dup r.(?) p.(Arg2Profs*136)
?/? 1 c.12C>G r.(?) p.(Tyr4*)
+/? 1 c.12C>G r.(?) p.(Tyr4*)
?/. - c.34G>A r.(?) p.(Gly12Ser)
?/. - c.34G>A r.(?) p.(Gly12Ser)
+?/. 1 c.34G>A r.(?) p.(Gly12Ser)
+/? 1_8i c.34_1428del r.(?) p.(Gly12_Leu476del)
+/. - c.42G>A r.(?) p.(Trp14*)
?/? 1 c.51C>G r.(?) p.(Phe17Leu)
?/? 1 c.51C>G r.(?) p.(Phe17Leu)
?/? 1 c.56G>C r.(?) p.(Arg19Pro)
+/? 1 c.56G>C r.(?) p.(Arg19Pro)
+?/. - c.67_69del r.(?) p.(Phe23del)
+/? 1 c.67_69del r.(?) p.(Phe23del)
?/? 1 c.83G>T r.(?) p.(Ser28Ile)
+/? 1 c.83G>T r.(?) p.(Ser28Ile)
+/. - c.95A>G r.(?) p.(Asn32Ser)
+/. - c.95A>G r.(?) p.(Asn32Ser)
+/. - c.95A>G r.(?) p.(Asn32Ser)
?/? 1 c.95A>G r.(?) p.(Asn32Ser)
+/? 1 c.95A>G r.(?) p.(Asn32Ser)
+/? 1 c.95A>G r.(?) p.(Asn32Ser)
?/. - c.123C>G r.(?) p.(Phe41Leu)
+?/. - c.136C>T r.(?) p.(Pro46Ser)
+/. - c.136C>T r.(?) p.(Pro46Ser)
+?/. - c.136C>T r.(?) p.(Pro46Ser)
+/. - c.136C>T r.(?) p.(Pro46Ser)
+/? 1 c.136C>T r.(?) p.(Pro46Ser)
+/? 1 c.136C>T r.(?) p.(Pro46Ser)
+/? 1 c.136C>T r.(?) p.(Pro46Ser)
+/? 1 c.207G>C r.(?) p.(=)
+/? 1 c.235del r.(?) p.(His79Thrfs*51)
+?/. - c.248G>T r.(?) p.(Arg83Leu)
?/? 1 c.248G>T r.(?) p.(Arg83Leu)
+/? 1 c.248G>T r.(?) p.(Arg83Leu)
+/? 1 c.254_264dup r.(?) p.(Ile89Glyfs*45)
+/? 1 c.285T r.(?) p.(=)
-/. - c.285T>C r.(?) p.(Leu95=)
-/. - c.285T>C r.(?) p.(Leu95=)
-?/. - c.287G>C r.(?) p.(Gly96Ala)
+/? 1 c.? r.(?) p.(=)
+/. - c.321del r.(?) p.(Gln107HisfsTer23)
+?/. - c.364G>T r.(?) p.(Asp122Tyr)
?/. - c.364G>T r.(?) p.(Asp122Tyr)
?/. - c.364G>T r.(?) p.(Asp122Tyr)
-?/. - c.394-191T>C r.(=) p.(=)
+/. - c.396G>A r.(?) p.(Trp132*)
+/. - c.396G>A r.(?) p.(Trp132*)
+/. - c.396G>A r.(?) p.(Trp132*)
?/? 2 c.396G>A r.(?) p.(Trp132*)
+/? 2 c.396G>A r.(?) p.(Trp132*)
+/? 2 c.396G>A r.(?) p.(Trp132*)
-?/. - c.415G>A r.(?) p.(Asp139Asn)
+/? 2 c.424G>T r.(?) p.(Ala142Ser)
-/. - c.430C>T r.(?) p.(Leu144Phe)
?/. - c.457G>C r.(?) p.(Val153Leu)
+/? 2 c.458_459del r.(?) p.(Val153Alafs*41)
?/. - c.490T>C r.(?) p.(Ser164Pro)
+/? 3 c.505C>T r.(?) p.(Arg169Trp)
+?/. - c.505C>T r.(?) p.(Arg169Trp)
+?/. - c.505C>T r.(?) p.(Arg169Trp)
+/? 3 c.506G>A r.(?) p.(Arg169Gln)
+/. - c.506G>A r.(?) p.(Arg169Gln)
?/. 3 c.535A>T r.(?) p.(Met179Leu)
+/? 3 c.632A>G r.(?) p.(Tyr211Cys)
?/. - c.640G>T r.(?) p.(Ala214Ser)
?/. - c.641C>T r.(?) p.(Ala214Val)
?/. - c.641C>T r.(?) p.(Ala214Val)
+/? 3 c.651_652insTATGGCCATCAGGTTGGAG r.(?) p.(Gly218Tyrfs*68)
+/? 3i c.652+1G>A r.spl? p.(=)
?/? 3i c.652+1G>A r.spl? p.(=)
-/. - c.652+6A>G r.(=) p.(=)
+/? 4 c.654_824+1del r.(?) p.?
+?/. - c.680G>A r.(?) p.(Arg227His)
-?/. - c.684A>G r.(?) p.(Ile228Met)
+/? 4 c.695C>T r.(?) p.(Thr232Met)
?/? 4 c.695C>T r.(?) p.(Thr232Met)
?/? 4 c.700G>C r.(?) p.(Gly234Arg)
?/? 4 c.725G>T r.(?) p.(Gly242Val)
+/? 4 c.725G>T r.(?) p.(Gly242Val)
+/. 4 c.760C>T r.(760c>u) p.(Arg254*)
+/? 4 c.760C>T r.(?) p.(Arg254*)
+/? 4 c.760C>T r.(?) p.(Arg254*)
?/? 4 c.760C>T r.(?) p.(Arg254*)
+/? 4 c.760C>T r.(?) p.(Arg254*)
+/? 4 c.760C>T r.(?) p.(Arg254*)
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