Product Details

SNP ID
rs11067232
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109556372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAGCATCTCCATCCCTTTCAGAG[G/T]GGGTCCTCTAAGCTGCACCCCCATC
Phenotype
MIM: 607568
Polymorphism
G/T, 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 1482 UTR 3 NP_443077.1
XM_011538267.2 1482 Intron XP_011536569.1
XM_011538268.2 1482 Intron XP_011536570.1
XM_011538269.2 1482 Intron XP_011536571.1

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