Product Details

SNP ID

rs141066224

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1397495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCCAGCAGCGCGGGCACCTGC[A/G]TCTCCTGGTCGGGGATGGCACCAGG

Phenotype

MIM: 601240 MIM: 601825

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GAMT PubMed Links

Additional Information

For this assay, SNP(s) [rs17851582] are located under a primer 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

GAMT

Gene Name

guanidinoacetate N-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000156.5	669	Missense Mutation	ACG,ATG	T192M	NP_000147.1
NM_138924.2	669	Intron			NP_620279.1

Gene

NDUFS7

Gene Name

NADH:ubiquinone oxidoreductase core subunit S7

There are no transcripts associated with this gene.

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