Product Details

SNP ID
rs115391450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:46900713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACTATGCACCTACCCAAACCTGC[C/T]GGACAGCCCCAGCTTCCCAGAAGAT
Phenotype
MIM: 138210
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GPT2 PubMed Links

Gene Details

Gene
GPT2
Gene Name
glutamic--pyruvic transaminase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142466.2 451 Missense Mutation CCG,CTG P22L NP_001135938.1
NM_133443.3 451 Missense Mutation CCG,CTG P122L NP_597700.1
XM_017023790.1 451 Intron XP_016879279.1

View Full Product Details