Product Details

SNP ID

rs75608389

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:71110061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATGTGCTCCTATTTTGACCTCT[C/T]CACTTAGACTGCGGATCTTCTTTTT

Phenotype

MIM: 608419

Polymorphism

C/T, Transition 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	347	Missense Mutation	GAA,GGA	E147G	NP_115990.3
XM_005264613.2	347	Missense Mutation	GAA,GGA	E93G	XP_005264670.1

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