Product Details

SNP ID

rs112535272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45366156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTAAAGGAGATGATATGCACTC[C/T]GTAGTCTGGAGCAAGATGCCTACGC

Phenotype

MIM: 602360

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GATM PubMed Links

Gene Details

Gene

GATM

Gene Name

glycine amidinotransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321015.1	1197	Missense Mutation	AGA,GGA	R161G	NP_001307944.1
NM_001482.2	1197	Missense Mutation	AGA,GGA	R290G	NP_001473.1

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