Product Details

SNP ID

rs141471799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1397400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGCGTGATCATCTGTGGGAAGG[C/T]GTAGTAGCGGCAGTCGGCCGGTGGG

Phenotype

MIM: 601240 MIM: 601825

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GAMT PubMed Links

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	764	Missense Mutation	ACC,GCC	T224A	NP_000147.1
NM_138924.2	764	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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