Product Details

SNP ID

rs17020461

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:145637552 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTTAAACTATTCTTTTTTCCCTAA[G/T]AGAATGTTAAGAAGCTAAAATTAAT

Phenotype

MIM: 607481

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MMAA PubMed Links

Gene Details

Gene

MMAA

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblA type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172250.2		Intron			NP_758454.1
XM_011531684.2		Intron			XP_011529986.1
XM_011531685.2		Intron			XP_011529987.1
XM_011531686.2		Intron			XP_011529988.1

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