Product Details

SNP ID

rs111922023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113721842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGCACATGAGCATCTGCGGGC[C/T]CTATCCTCTTATAGTAGTTCTTCTT

Phenotype

MIM: 610834

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NAA50 PubMed Links

Gene Details

Gene

NAA50

Gene Name

N(alpha)-acetyltransferase 50, NatE catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308445.1	775	Missense Mutation	GAG,GGG	E142G	NP_001295374.1
NM_025146.3	775	Missense Mutation	GAG,GGG	E143G	NP_079422.1

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