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SNP ID

rs202003358

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:73700639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGAAATCATAGACGCCCTGCCT[C/G]AGCAGAAGGGAGGTGATAGATGAAA

Phenotype

MIM: 608190

Polymorphism

C/G, Transversion 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	702	Missense Mutation	CAG,GAG	Q223E	NP_057431.2

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