Product Details

SNP ID

rs147975645

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:210195220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTAGCATGCATACCAATATTTC[A/G]CCATGCAAGCAGTGGCGGAGTCCAA

Phenotype

MIM: 609576

Polymorphism

A/G, 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	1759	Missense Mutation	GCG,GTG	A368V	NP_001599.1
XM_005246517.4	1759	Missense Mutation	GCG,GTG	A347V	XP_005246574.1
XM_017003955.1	1759	Missense Mutation	GCG,GTG	A227V	XP_016859444.1

View Full Product Details