Product Details

SNP ID

rs61940512

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:109574961 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

CCCTTCTCCCTGATGCTAATTTTGT[A/G]AGAAGGTAAAAGGACACCCTGAGGC

Phenotype

MIM: 607568 MIM: 251170

Polymorphism

A/G, Transition 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		Intron			NP_000422.1
NM_001114185.2		Intron			NP_001107657.1
NM_001301182.1		Intron			NP_001288111.1
XM_011538372.2		Intron			XP_011536674.2
XM_017019313.1		Intron			XP_016874802.1
XM_017019314.1		Intron			XP_016874803.1

View Full Product Details