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SNP ID

rs28429144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:149572905 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGTCCAAGCCTTACAAATCAA[G/T]ACTATATTGTAATTCAGAGGTTAGT

Phenotype

MIM: 611935

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MMADHC PubMed Links

Gene Details

Gene

MMADHC

Gene Name

methylmalonic aciduria and homocystinuria, cblD type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015702.2		Intron			NP_056517.1

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