Product Details

SNP ID
rs180177268
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:240868942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCCATCCCCAACCAGCTCCTGC[C/T]GGGGCCTGGTCCTTCCAACCTGCCT
Phenotype
MIM: 604285
Polymorphism
C/T, 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_000030.2 198 Missense Mutation CCG,CTG P26L NP_000021.1

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