Product Details

SNP ID

rs11831226

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109556307 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGCAGACCCTTGACTCAGTCCAACC[A/C]GACAGGGAATGTTCACCTTCAAGTG

Phenotype

MIM: 607568

Polymorphism

A/C, Transversion 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	1547	UTR 3			NP_443077.1
XM_011538267.2	1547	Intron			XP_011536569.1
XM_011538268.2	1547	Intron			XP_011536570.1
XM_011538269.2	1547	Intron			XP_011536571.1

View Full Product Details