Product Details

SNP ID
rs2617434
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:96935934 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACCCGCTCCCACCTCGCCTGTCC[A/G]CGGAGCAGCAGGGGGTTTGACTGTG
Phenotype
MIM: 606832 MIM: 151300
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ERAP1 PubMed Links
Additional Information
For this assay, SNP(s) [rs180938598] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
ERAP1
Gene Name
endoplasmic reticulum aminopeptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040458.1 293 Intron NP_001035548.1
NM_001198541.1 293 Intron NP_001185470.1
NM_016442.3 293 Intron NP_057526.3
XM_005272015.4 293 Intron XP_005272072.1
XM_005272016.4 293 Intron XP_005272073.1
XM_011543480.2 293 UTR 5 XP_011541782.1
XM_011543481.2 293 UTR 5 XP_011541783.1
XM_011543484.2 293 UTR 5 XP_011541786.1
XM_011543485.2 293 UTR 5 XP_011541787.1
XM_011543486.2 293 UTR 5 XP_011541788.1
XM_017009580.1 293 UTR 5 XP_016865069.1
XM_017009581.1 293 UTR 5 XP_016865070.1
XM_017009582.1 293 Intron XP_016865071.1
XM_017009583.1 293 Intron XP_016865072.1
Gene
LNPEP
Gene Name
leucyl and cystinyl aminopeptidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005575.2 293 UTR 5 NP_005566.2
NM_175920.3 293 Intron NP_787116.2
Gene
LOC101929747
Gene Name
uncharacterized LOC101929747
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005272150.4 293 Missense Mutation CGG,TGG R48W XP_005272207.1

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