Product Details

SNP ID

rs143145717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113723471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGACATCCTAGTGTCATGATGTA[A/C]AGTCTCTTCTGATTCTGTGAATGAT

Phenotype

MIM: 610834

Polymorphism

A/C, Transversion 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	563	Silent Mutation	CTG,CTT	L71L	NP_001295374.1
NM_025146.3	563	Silent Mutation	CTG,CTT	L72L	NP_079422.1

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