Product Details

SNP ID

rs112583776

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:45366183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTCTGGAGCAAGATGCCTACGCA[C/T]CCATTCAATGCCTAGGTAGTTTGTA

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	1170	Missense Mutation	ATG,GTG	M152V	NP_001307944.1
NM_001482.2	1170	Missense Mutation	ATG,GTG	M281V	NP_001473.1

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