Product Details

SNP ID

rs121918252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49431831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGGACCAAATACATTGGAAACA[A/C]CAACTTCAAACAGAAATTCATAATC

Phenotype

MIM: 609058

Polymorphism

A/C, 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	2415	Missense Mutation	GGT,GTT	G717V	NP_000246.2
XM_005249143.3	2415	Missense Mutation	GGT,GTT	G717V	XP_005249200.1

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