Product Details

SNP ID

rs150487146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:110476860 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACCCGGCTCCCGGAGCTGAAGA[A/G]GCCCTCTGGGGACCAGGTGCAAGTC

Phenotype

MIM: 138297

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ENPEP PubMed Links

Gene Details

Gene

ENPEP

Gene Name

glutamyl aminopeptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001977.3	788	Missense Mutation	AAG,AGG	K149R	NP_001968.3
XM_017007877.1	788	Intron			XP_016863366.1

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