Product Details

SNP ID
rs180177170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:240868990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCTCGCATCATGGCAGCCGGGG[A/G]GCTGCAGATGATCGGGTCCATGAGC
Phenotype
MIM: 604285
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AGXT PubMed Links

Gene Details

Gene
AGXT
Gene Name
alanine-glyoxylate aminotransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000030.2 246 Missense Mutation GAG,GGG E42G NP_000021.1

View Full Product Details