Product Details

SNP ID

rs17108140

Assay Type

Functionally tested

NCBI dbSNP Submissions

53

Location

Chr.1:53217006 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAACTCATCCCCTTCTTAGAGGAA[A/G]CCTGCCTTGGGCACCTGCTCCCTAT

Phenotype

MIM: 600650 MIM: 602603

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.

Gene

MAGOH

Gene Name

mago homolog, exon junction complex core component

There are no transcripts associated with this gene.

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