Product Details

SNP ID

rs12616061

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:240887100 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTCCTCGCCTCCCAGAGTCCTGGT[C/T]TTCTGGAAGATGCTCTGCATGGCAG

Phenotype

MIM: 604285

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AGXT PubMed Links

Gene Details

Gene

AGXT

Gene Name

alanine-glyoxylate aminotransferase

There are no transcripts associated with this gene.

Gene

C2orf54

Gene Name

chromosome 2 open reading frame 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085437.2	1473	Silent Mutation	AAA,AAG	K438K	NP_001078906.2
NM_001282921.1	1473	Silent Mutation	AAA,AAG	K289K	NP_001269850.1
NM_024861.3	1473	Silent Mutation	AAA,AAG	K270K	NP_079137.3
XM_011511877.1	1473	Silent Mutation	AAA,AAG	K438K	XP_011510179.1

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