Transcript #00024213 (NM_022977.2, ACSL4 gene)

Transcript name transcript variant 2
Gene name ACSL4 (acyl-CoA synthetase long-chain family member 4)
Chromosome X
Transcript - NCBI ID NM_022977.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_075266.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 11 c.? r.? p.?
?/. - c.190C>T r.(?) p.(His64Tyr)
-?/. - c.213A>G r.(?) p.(Ile71Met)
+/. - c.484G>T r.(?) p.(Glu162Ter)
?/. - c.526C>G r.(?) p.(Pro176Ala)
-/. - c.581A>G r.(?) p.(Asn194Ser)
-?/. - c.613G>A r.(?) p.(Val205Ile)
-?/. - c.639+8T>G r.(=) p.(=)
?/. - c.674T>A r.(?) p.(Ile225Asn)
./. 7i c.779-342G>T r.(=) p.(=)
-?/. - c.819C>T r.(?) p.(Ala273=)
-/. - c.929+3A>G r.spl? p.?
-?/. - c.929+3A>G r.spl? p.?
-?/. - c.929+3A>G r.spl? p.?
-?/. - c.932C>T r.(?) p.(Pro311Leu)
?/. - c.939C>G r.(?) p.(Asp313Glu)
./. 9i c.1054-71T>C r.(=) p.(=)
./. 9i c.1054-71T>C r.(=) p.(=)
./. 9i c.1054-55A>G r.(=) p.(=)
./. 9i c.1054-55A>G r.(=) p.(=)
./. - c.1124C>T r.(?) p.(Pro375Leu)
?/. - c.1135G>A r.(?) p.(Asp379Asn)
-?/. - c.1145A>G r.(?) p.(Tyr382Cys)
?/. - c.1145A>G r.(?) p.(Tyr382Cys)
?/. - c.1214A>T r.(?) p.(Asp405Val)
-?/. - c.1303A>G r.(?) p.(Asn435Asp)
?/. - c.1382C>T r.(?) p.(Pro461Leu)
-/. - c.1384A>G r.(?) p.(Ile462Val)
+/. 12i c.1439-195_*1127737del r.? p.?
-/. - c.1448A>G r.(?) p.(Tyr483Cys)
-?/. - c.1448A>G r.(?) p.(Tyr483Cys)
?/. - c.1514-7T>C r.(=) p.(=)
?/. - c.1582A>G r.(?) p.(Met528Val)
-?/. - c.1599T>C r.(?) p.(Asn533=)
?/. - c.1613C>T r.(?) p.(Ala538Val)
?/. - c.1613C>T r.(?) p.(Ala538Val)
+/. - c.1705+1G>A r.spl? p.?
-?/. - c.1731A>G r.(?) p.(Leu577=)
-?/. - c.1749A>G r.(?) p.(Val583=)
./. 15i c.1820+31G>A r.(=) p.(=)
./. 15i c.1820+31G>A r.(=) p.(=)
-?/. - c.1894G>A r.(?) p.(Val632Ile)
+?/. - c.1960C>T r.(?) p.(Arg654*)
./. - c.1960C>T r.(?) p.(Arg654*)
-?/. - c.1979-9T>C r.(=) p.(=)
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