Product Details

SNP ID

rs8589

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49435569 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTATGACCAGCAGCGAGGGTGCTTA[C/T]GCCCACAGCATGCACATCCGCATCC

Phenotype

MIM: 609058

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MUT PubMed Links

Additional Information

For this assay, SNP(s) [rs144146728] 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

MUT

Gene Name

methylmalonyl-CoA mutase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000255.3	2276	Missense Mutation	ATA,GTA	I671V	NP_000246.2
XM_005249143.3	2276	Missense Mutation	ATA,GTA	I671V	XP_005249200.1

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