Product Details

SNP ID

rs2353486

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:24810554 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACCCTCAGGAATGACAGGTCTCTC[C/T]TTCTCACGCTTGTGGGAATTGAGCG

Phenotype

MIM: 113520

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BCAT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs74324464] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	9035	UTR 3			NP_001171562.1
NM_001178092.1	9035	UTR 3			NP_001171563.1
NM_001178093.1	9035	UTR 3			NP_001171564.1
NM_001178094.1	9035	UTR 3			NP_001171565.1
NM_005504.6	9035	UTR 3			NP_005495.2
XM_017019768.1	9035	Intron			XP_016875257.1

View Full Product Details