Product Details

SNP ID
rs2046138
Assay Type
Validated
NCBI dbSNP Submissions
49
Location
Chr.1:53199940 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TGTTAATTTTGAGTTGGTAGAGGCA[A/G]CCTAACAAACTCTGATTGTTTTGCT
Phenotype
MIM: 600650
Polymorphism
A/G, 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 Intron NP_000089.1
XM_005270484.1 Intron XP_005270541.1

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