Product Details

SNP ID
rs112244449
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:34998741 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTACTTAGCTCTTCTTTCCATG[C/T]GTTGGGTTAAGGCAGAACGAAATAC
Phenotype
MIM: 612471
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AGXT2 PubMed Links

Gene Details

Gene
AGXT2
Gene Name
alanine--glyoxylate aminotransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306173.1 1816 Missense Mutation CAC,CGC H433R NP_001293102.1
NM_031900.3 1816 Missense Mutation CAC,CGC H508R NP_114106.1
XM_005248337.2 1816 Missense Mutation CAC,CGC H507R XP_005248394.1
XM_005248338.2 1816 Missense Mutation CAC,CGC H443R XP_005248395.1
XM_017009748.1 1816 Missense Mutation CAC,CGC H433R XP_016865237.1

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