Product Details

SNP ID

rs148413056

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:71133033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATAGAAAATTTTGATGATGAGCA[C/G]ATTTGGCAACAACTGGAATTGCAAA

Phenotype

MIM: 608419 MIM: 605503

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

MCEE PubMed Links

Additional Information

For this assay, SNP(s) [rs10199088] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MCEE

Gene Name

methylmalonyl-CoA epimerase

There are no transcripts associated with this gene.

Gene

MPHOSPH10

Gene Name

M-phase phosphoprotein 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005791.2	577	Missense Mutation	CAC,CAG	H75Q	NP_005782.1

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