Product Details

SNP ID

rs142598568

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:53200761 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAAGACACCATTAGGAGATACCT[C/G]AGTGCACAGAAGCCTCTCTTGAATG

Phenotype

MIM: 600650

Polymorphism

C/G, Transversion 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	378	Silent Mutation	CTC,CTG	L65L	NP_000089.1
XM_005270484.1	378	Silent Mutation	CTC,CTG	L65L	XP_005270541.1

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