Product Details

SNP ID

rs202063640

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:73700921 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCGCTTCTCCCTCAAGGTGGGAT[C/T]ATCAACGGGCAGAGCTCCTACTGTG

Phenotype

MIM: 608190

Polymorphism

C/T, 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	420	Missense Mutation	AAT,GAT	N129D	NP_057431.2

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