Product Details

SNP ID

rs1044600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109556887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGAGGAAGGTGGCAAGAGGTGTA[A/G]ATCAAAGCTGAGCTGGGACAAAAGG

Phenotype

MIM: 607568

Polymorphism

A/G, 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	1299	UTR 3			NP_443077.1
XM_011538267.2	1299	UTR 3			XP_011536569.1
XM_011538268.2	1299	UTR 3			XP_011536570.1
XM_011538269.2	1299	UTR 3			XP_011536571.1

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