Product Details

SNP ID

rs200334627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:71109981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGCAAATATAAATCAAGCTTGCT[C/G]CAGTTCCACAAGGACTCCACCACAG

Phenotype

MIM: 608419

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MCEE PubMed Links

Gene Details

Gene

MCEE

Gene Name

methylmalonyl-CoA epimerase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032601.3	427	Missense Mutation	CAG,GAG	Q174E	NP_115990.3
XM_005264613.2	427	Missense Mutation	CAG,GAG	Q120E	XP_005264670.1

View Full Product Details