Transcript #00019184

Transcript name transcript variant 1
Gene name SLC25A1 (solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1)
Chromosome 22
Transcript - NCBI ID NM_005984.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005975.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

67 entries on 1 page. Showing entries 1 - 67.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-2664376_*324356dup r.? p.?
./. - c.-2297933_*140480del r.0? p.0?
./. - c.-2297933_*270080del r.0? p.0?
./. - c.-2297933_*274604del r.0? p.0?
-?/. - c.-4912G>A r.(?) p.(=)
+/. 1 c.18_24dup r.(?) p.(Ala9Profs*82)
+/. - c.18_24dup r.(?) p.(Ala9Profs*82)
+/. - c.18_24dup r.(?) p.(Ala9Profs*82)
+/. - c.18_24dup r.(?) p.(Ala9Profs*82)
+/. - c.18_24dup r.(?) p.(Ala9Profs*82)
+/. - c.18_24dup r.(?) p.(Ala9Profs*82)
+/. 1 c.82G>A r.(?) p.(Ala28Thr)
+?/+? 1 c.82G>A r.(?) p.Ala28Thr
-/. - c.95-70G>C r.(=) p.(=)
-?/. - c.95-70G>C r.(=) p.(=)
+/. 2 c.119T>A r.(?) p.(Ile40Asn)
+?/+? 2 c.119T>A r.(?) p.Ile40Asn
+/. 2 c.134C>T r.(?) p.(Pro45Leu)
+/. - c.134C>T r.(?) p.(Pro45Leu)
+/+ 2 c.134C>T r.(?) p.Pro45Leu
+/. 2 c.139G>A r.(?) p.(Glu47Lys)
+/+ 2 c.139G>A r.(?) p.Glu47Lys
+/. 3 c.278G>A r.(?) p.(Gly93Asp)
+/+ 3 c.278G>A r.(?) p.Gly93Asp
?/. - c.350dup r.(?) p.(Arg118ThrfsTer52)
+/. 4 c.389G>A r.(?) p.(Gly130Asp)
+/. - c.389G>A r.(?) p.(Gly130Asp)
+/+ 4 c.389G>A r.(?) p.Gly130Asp
+/. 4 c.430G>C r.(?) p.(Glu144Gln)
+/+ 4 c.430G>C r.(?) p.Glu144Gln
?/. - c.457G>T r.(?) p.(Asp153Tyr)
+/. 5 c.499G>A r.(?) p.(Gly167Arg)
+?/+? 5 c.499G>A r.(?) p.Gly167Arg
+/. 5 c.517_526del r.(?) p.(Arg173Glyfs*2)
+/. - c.517_526del r.(?) p.(Arg173Glyfs*2)
+/. 6 c.578C>G r.(?) p.(Ser193Trp)
+/. - c.578C>G r.(?) p.(Ser193Trp)
+?/+? 6 c.578C>G r.(?) p.Ser193Trp
+/. 6 c.593G>A r.(?) p.(Arg198His)
+/+ 6 c.593G>A r.(?) p.Arg198His
+/. - c.605T>C r.(?) p.(Met202Thr)
+?/+? 6 c.605T>C r.(?) p.Met202Thr
+/. 6 c.605T>G r.(?) p.(Met202Arg)
-?/. - c.632-3C>T r.spl? p.?
+/. 7 c.648_655del r.(?) p.(Met218Serfs*25)
+/. 7 c.740G>A r.(?) p.(Arg247Gln)
+?/+? 7 c.740G>A r.(?) p.Arg247Gln
+/. 8 c.768C>G r.(?) p.(Tyr256*)
+/+ 8 c.768C>G r.(?) p.Tyr256*
+/. 8 c.784T>C r.(?) p.(Cys262Arg)
+?/+? 8 c.784T>C r.(?) p.Cys262Arg
+/. 8 c.821C>T r.820_821del p.Ala274Ilefs*24
+/. - c.821C>T r.820_821del p.Ala274Ilefs*24
+/. - c.821C>T r.820_821del p.Ala274Ilefs*24
+/. 09 c.844C>G r.(?) p.(Arg282Gly)
+/+ 9 c.844C>G r.(?) p.Arg282Gly
+/. 9 c.844C>T r.(?) p.(Arg282Cys)
+/. - c.844C>T r.(?) p.(Arg282Cys)
+/+ 9 c.844C>T r.(?) p.Arg282Cys
+/. 9 c.845G>A r.(?) p.(Arg282His)
+/. - c.845G>A r.(?) p.(Arg282His)
+/+ 9 c.845G>A r.(?) p.Arg282His
+/. 9 c.890A>G r.(?) p.(Tyr297Cys)
+?/+? 9 c.890A>G r.(?) p.Tyr297Cys
-?/. - c.894T>C r.(?) p.(Asp298=)
-?/. - c.894T>C r.(?) p.(Asp298=)
-?/. - c.927G>A r.(?) p.(Lys309=)
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