Product Details

SNP ID

rs13397601

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:149576303 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACATTTCAAAGCCTTTATCTTGG[C/T]CATGCAATCATTTCCAGCCAGATAC

Phenotype

MIM: 611935

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MMADHC PubMed Links

Gene Details

Gene

MMADHC

Gene Name

methylmalonic aciduria and homocystinuria, cblD type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015702.2		Intron			NP_056517.1

View Full Product Details