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SNP ID

rs74880381

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:53216120 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGCATTGGGCTATAAGTAAGG[A/G]CCGGCCAGGCTGCTGGCTCTTCTCA

Phenotype

MIM: 600650

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1orf123 PubMed Links

Gene Details

Gene

C1orf123

Gene Name

chromosome 1 open reading frame 123

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304759.1		Intron			NP_001291688.1
NM_001304760.1		Intron			NP_001291689.1
NM_017887.2		Intron			NP_060357.1

Gene

CPT2

Gene Name

carnitine palmitoyltransferase 2

There are no transcripts associated with this gene.

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