Product Details

SNP ID

rs201327468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:105278232 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCACTTTGGCTGTGGGCTTCCCC[A/G]CCCCGTGGCCCGCCTTGGTGTCCAC

Phenotype

MIM: 600400

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PREP PubMed Links

Gene Details

Gene

PREP

Gene Name

prolyl endopeptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002726.4	2278	Missense Mutation	GCG,GTG	A682V	NP_002717.3
XM_005267044.2	2278	Intron			XP_005267101.1
XM_011535925.2	2278	Intron			XP_011534227.1

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