Product Details

SNP ID
rs201040751
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101362663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCCATGTCTCTTCAGCTGTCCT[A/G]TGGCTTGTTCAGCGTGTGCTTTGCT
Phenotype
MIM: 602938
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
BAAT PubMed Links

Gene Details

Gene
BAAT
Gene Name
bile acid-CoA:amino acid N-acyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127610.1 1232 Missense Mutation ACA,ATA T341I NP_001121082.1
NM_001701.3 1232 Missense Mutation ACA,ATA T341I NP_001692.1

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