Product Details

SNP ID

rs74315294

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:53202427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAATAAACATACAAGCTACATTT[C/T]GGGTAGGTAGGCTGGGCTGTGGGTA

Phenotype

MIM: 600650

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CPT2 PubMed Links

Gene Details

Gene

CPT2

Gene Name

carnitine palmitoyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000098.2	521	Missense Mutation	TCG,TTG	S113L	NP_000089.1
XM_005270484.1	521	Missense Mutation	TCG,TTG	S113L	XP_005270541.1

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