Product Details

SNP ID

rs144697393

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:110476928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAAAGCAGGAGTACGTGGTGGTC[C/G]AGGCGGAGGAAGAGCTTACCCCCAG

Phenotype

MIM: 138297

Polymorphism

C/G, 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	856	Missense Mutation	CAG,GAG	Q172E	NP_001968.3
XM_017007877.1	856	Intron			XP_016863366.1

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