Product Details

SNP ID
rs72915452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73700676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGATAGATGAAATGAACTGTATG[A/G]AGATCCACCAGCCTGGCCCACACGT
Phenotype
MIM: 608190
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NAT8B PubMed Links

Gene Details

Gene
NAT8B
Gene Name
N-acetyltransferase 8B (putative, gene/pseudogene)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016347.2 665 Silent Mutation CTC,CTT L210L NP_057431.2

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