Product Details

SNP ID

rs11067227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109553880 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGGCAGCAGCAAGGGTGACATTGC[C/T]ACTGACGGGGGCTTCCGAACTGGGG

Phenotype

MIM: 607568

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MMAB PubMed Links

Gene Details

Gene

MMAB

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblB type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052845.3	3974	UTR 3			NP_443077.1
XM_011538267.2	3974	Intron			XP_011536569.1
XM_011538268.2	3974	Intron			XP_011536570.1
XM_011538269.2	3974	Intron			XP_011536571.1

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