Product Details

SNP ID

rs201699531

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:240888379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGAGCGCCTTGAGCCCGGAGCC[C/G]ATGCGCGGCGGGGGGCTGCGGCCCA

Phenotype

MIM: 604285

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

AGXT PubMed Links

Additional Information

For this assay, SNP(s) [rs11899555] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1323	Silent Mutation	ATC,ATG	I388M	NP_001078906.2
NM_001282921.1	1323	Silent Mutation	ATC,ATG	I239M	NP_001269850.1
NM_024861.3	1323	Silent Mutation	ATC,ATG	I220M	NP_079137.3
XM_011511877.1	1323	Silent Mutation	ATC,ATG	I388M	XP_011510179.1

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