Product Details

SNP ID

rs10774774

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109573424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCCTGGCGGCGCCGAAGCACCC[G/T]CGCAGGCCAAGACGGCTCCCCAGGC

Phenotype

MIM: 607568 MIM: 251170

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MMAB PubMed Links

Additional Information

For this assay, SNP(s) [rs10774775] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	140	Silent Mutation	CGA,CGC	R19R	NP_443077.1
XM_011538267.2	140	Intron			XP_011536569.1
XM_011538268.2	140	Intron			XP_011536570.1
XM_011538269.2	140	Intron			XP_011536571.1

Gene

MVK

Gene Name

mevalonate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000431.3	140	Intron			NP_000422.1
NM_001114185.2	140	Intron			NP_001107657.1
NM_001301182.1	140	Intron			NP_001288111.1
XM_011538372.2	140	Missense Mutation	GCG,TCG	A47S	XP_011536674.2
XM_017019313.1	140	Intron			XP_016874802.1
XM_017019314.1	140	Intron			XP_016874803.1

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