Product Details

SNP ID

rs147710123

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1388848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTGCCAGCACCCAGCCTGCCCT[A/G]CCAAAGGCCAGAGCCGTGGCTCCCA

Phenotype

MIM: 601240 MIM: 601825

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAMT PubMed Links

Gene Details

Gene

GAMT

Gene Name

guanidinoacetate N-methyltransferase

There are no transcripts associated with this gene.

Gene

NDUFS7

Gene Name

NADH:ubiquinone oxidoreductase core subunit S7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024407.4	181	Silent Mutation	CTA,CTG	L46L	NP_077718.3
XM_005259556.4	181	Silent Mutation	CTA,CTG	L46L	XP_005259613.2
XM_017026768.1	181	Silent Mutation	CTA,CTG	L131L	XP_016882257.1

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