Transcript #00000381

Transcript name transcript variant X1
Gene name ACADL (acyl-CoA dehydrogenase, long chain)
Chromosome 2
Transcript - NCBI ID XM_005246517.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005246574.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-845G>T p.(=) - - - -
./. - - c.23A>G p.(His8Arg) - - - -
./. - - c.31G>A p.(Gly11Arg) - - - -
./. - - c.50C>T p.(Thr17Ile) - - - -
./. - - c.170+13T>C p.(=) - - - -
./. - - c.190G>A p.(Val64Ile) - - - -
./. - - c.311C>T p.(Ala104Val) - - - -
./. - - c.540+11A>G p.(=) - - - -
./. - - c.558G>T p.(=) - - - -
./. - - c.566G>A p.(Ser189Asn) - - - -
./. - - c.588G>A p.(=) - - - -
./. - - c.591C>T p.(=) - - - -
./. - - c.876T>C p.(=) - - - -
./. - - c.929A>G p.(Gln310Arg) - - - -
?/? - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - -
./. - - c.934A>C p.(Lys312Gln) - - - -
./. - - c.1081G>A p.(Asp361Asn) - - - -
./. - - c.*530T>C p.(=) - - - -
./. - - c.*621G>A p.(=) - - - -
./. - - c.*711G>A p.(=) - - - -
./. - - c.*724T>C p.(=) - - - -
./. - - c.*928A>G p.(=) - - - -
Legend