Product Details

SNP ID
rs149621078
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48796646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGTGCCCGAGCCAAAGACTTCCC[A/G]CACGCGGCCCTCCTCCAGGGCCCGC
Phenotype
MIM: 113530
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BCAT2 PubMed Links

Gene Details

Gene
BCAT2
Gene Name
branched chain amino acid transaminase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164773.1 1534 Silent Mutation AGG,GGG R241G NP_001158245.1
NM_001190.3 1534 Silent Mutation AGG,GGG R333G NP_001181.2
NM_001284325.1 1534 Silent Mutation AGG,GGG R293G NP_001271254.1

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