Product Details

SNP ID
rs74324464
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:24810575 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTTTCTCACGCTTGTGGGAATT[C/G]AGCGTTGACACTGTAAGAACACTTG
Phenotype
MIM: 113520
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BCAT1 PubMed Links

Gene Details

Gene
BCAT1
Gene Name
branched chain amino acid transaminase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178091.1 9014 UTR 3 NP_001171562.1
NM_001178092.1 9014 UTR 3 NP_001171563.1
NM_001178093.1 9014 UTR 3 NP_001171564.1
NM_001178094.1 9014 UTR 3 NP_001171565.1
NM_005504.6 9014 UTR 3 NP_005495.2
XM_017019768.1 9014 Intron XP_016875257.1

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