Transcript #00000665

Transcript name carnitine palmitoyltransferase 2
Gene name CPT2 (carnitine palmitoyltransferase 2)
Chromosome 1
Transcript - NCBI ID NM_000098.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000089.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0)
+/+ - 3/5 c.338C>T p.(Ser113Leu) probably_damaging(0.98) missense_variant,splice_region_variant - deleterious(0)
+/+ - 4/5 c.359A>G p.(Tyr120Cys) - missense_variant - -
+/+ - 4/5 c.520G>A p.(Glu174Lys) - missense_variant - -
+/+ - 4/5 c.638A>G p.(Asp213Gly) - missense_variant - -
+/+ - 4/5 c.680C>T p.(Pro227Leu) - missense_variant - -
+/+ - 4/5 c.1148T>A p.(Phe383Tyr) - missense_variant - -
+/+ - - c.1238_1239del p.(Lys414Thrfs*7) - - - -
+/+ - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - -
+/+ - 4/5 c.1360G>T p.(Glu454*) - stop_gained - -
+?/+? - 5/5 c.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0)
+/+ - 5/5 c.1657G>A p.(Asp553Asn) probably_damaging(0.978) missense_variant - tolerated(0.05)
+/+ - 5/5 c.1883A>C p.(Tyr628Ser) probably_damaging(0.987) missense_variant - deleterious(0)
+/+ - 5/5 c.1891C>T p.(Arg631Cys) benign(0.284) missense_variant - deleterious(0.01)
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