Product Details

SNP ID
rs199818269
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:210195331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTTAATTCTGCTAATTTATGT[C/T]GCACTGTCTTGAATTTAAAGGAAAT
Phenotype
MIM: 609576
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACADL PubMed Links

Gene Details

Gene
ACADL
Gene Name
acyl-CoA dehydrogenase, long chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001608.3 1648 Missense Mutation CAA,CGA Q331R NP_001599.1
XM_005246517.4 1648 Missense Mutation CAA,CGA Q310R XP_005246574.1
XM_017003955.1 1648 Missense Mutation CAA,CGA Q190R XP_016859444.1

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