Product Details

SNP ID

rs75626276

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:110476952 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGGCGGAGGAAGAGCTTACCCCC[A/C]GCAGTGGAGATGGCCTGTATCTCCT

Phenotype

MIM: 138297

Polymorphism

A/C, Transversion 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	880	Missense Mutation	AGC,CGC	S180R	NP_001968.3
XM_017007877.1	880	Intron			XP_016863366.1

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