Product Details

SNP ID
rs398123072
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:75732682 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAAAGAATTTCAAGCTACTGCT[C/T]GTAAATTTGCCAGAGAGGAAATCAT
Phenotype
MIM: 607008
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACADM PubMed Links

Gene Details

Gene
ACADM
Gene Name
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000016.5 510 Missense Mutation CGT,TGT R53C NP_000007.1
NM_001127328.2 510 Missense Mutation CGT,TGT R57C NP_001120800.1
NM_001286042.1 510 Missense Mutation CGT,TGT R17C NP_001272971.1
NM_001286043.1 510 Missense Mutation CGT,TGT R53C NP_001272972.1
NM_001286044.1 510 UTR 5 NP_001272973.1
Gene
DLSTP1
Gene Name
dihydrolipoamide S-succinyltransferase pseudogene 1
There are no transcripts associated with this gene.

Gene
SLC44A5
Gene Name
solute carrier family 44 member 5
There are no transcripts associated with this gene.

View Full Product Details