Product Details

SNP ID

rs72650177

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109555619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTCCGTACCAGACCTGGTAGTGA[C/T]GATGGGGGCAGGGAGGCACGGAACA

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	2235	UTR 3			NP_443077.1
XM_011538267.2	2235	Intron			XP_011536569.1
XM_011538268.2	2235	Intron			XP_011536570.1
XM_011538269.2	2235	Intron			XP_011536571.1

View Full Product Details