Product Details

SNP ID

rs144714898

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:101362460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACTGGTCACATCTGGAATGAGGT[C/G]CTTCCTGAGAAATCTCTGGATCTCC

Phenotype

MIM: 602938

Polymorphism

C/G, Transversion 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	1435	Missense Mutation	CAC,GAC	H409D	NP_001121082.1
NM_001701.3	1435	Missense Mutation	CAC,GAC	H409D	NP_001692.1

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