Product Details

SNP ID

rs3759387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109574662 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTTGGATGTGTCCAGTTGACTCCT[G/T]CATTGCCTTTCTGGTACGTAGCAAG

Phenotype

MIM: 607568 MIM: 251170

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MMAB PubMed Links

Gene Details

Gene

MMAB

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblB type

There are no transcripts associated with this gene.

Gene

MVK

Gene Name

mevalonate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000431.3	632	Intron			NP_000422.1
NM_001114185.2	632	Intron			NP_001107657.1
NM_001301182.1	632	Intron			NP_001288111.1
XM_011538372.2	632	Intron			XP_011536674.2
XM_017019313.1	632	Intron			XP_016874802.1
XM_017019314.1	632	UTR 5			XP_016874803.1

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