Product Details

SNP ID

rs188796821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49431844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTGGAAACACCAACTTCAAACA[G/T]AAATTCATAATCCTGTTGAAAGAAT

Phenotype

MIM: 609058

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MUT PubMed Links

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	2402	Missense Mutation	ATG,CTG	M713L	NP_000246.2
XM_005249143.3	2402	Missense Mutation	ATG,CTG	M713L	XP_005249200.1

View Full Product Details