Product Details

SNP ID
rs140447588
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:96879781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTAACAGCCATCTTGCCCCAAAT[A/T]TGCATTTGTTCTCAGTTCTCAGTGC
Phenotype
MIM: 606832 MIM: 609497
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ERAP1 PubMed Links

Gene Details

Gene
ERAP1
Gene Name
endoplasmic reticulum aminopeptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040458.1 279 Intron NP_001035548.1
NM_001198541.1 279 Intron NP_001185470.1
NM_016442.3 279 Intron NP_057526.3
XM_005272015.4 279 Intron XP_005272072.1
XM_005272016.4 279 Intron XP_005272073.1
XM_011543480.2 279 Intron XP_011541782.1
XM_011543481.2 279 Intron XP_011541783.1
XM_011543484.2 279 Intron XP_011541786.1
XM_011543485.2 279 Intron XP_011541787.1
XM_011543486.2 279 Intron XP_011541788.1
XM_017009580.1 279 Intron XP_016865069.1
XM_017009581.1 279 Intron XP_016865070.1
XM_017009582.1 279 Intron XP_016865071.1
XM_017009583.1 279 Intron XP_016865072.1
Gene
ERAP2
Gene Name
endoplasmic reticulum aminopeptidase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011543544.1 279 Silent Mutation ATA,ATT I32I XP_011541846.1

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