Gene | dbSNP* | Chromosome allele position | Amino acid change(nucleotide variants)† | Location | Function |
---|---|---|---|---|---|
ERAP1 | rs27044 | chr5:96783148 | Q (CAA)/E (GAA) Q (CAA)/stop (TAA) | Exon | Missense |
rs17482078 | chr5:96783162 | R (CGA)/P (CCA) R (CGA)/Q (CAA) | Exon | Missense | |
rs10050860 | chr5:96786506 | D (GAC)/N (AAC) | Exon | Missense | |
rs30187 | chr5:96788627 | K (AAG/R (AGG) K (AAG)/M (ATG) | Exon | Missense | |
ERAP2 | rs2549782 | ch5:96895296 | K (AAG)/N (AAT) K (AAG)/N (AAC) | Exon | Missense |
rs2248374 | chr5:96900192 | (G)/(A) | Intron | G allele: mRNA decay | |
rs2910686 | chr5:96916885 | (C)/(T) | Intron | – |
*Links to the online information on each SNP in the dbSNP—the Reference SNP (rs) Report web pages—are within parenthesis as follows: rs27044 (https://www.ncbi.nlm.nih.gov/snp/rs27044), rs17482078(https://www.ncbi.nlm.nih.gov/snp/rs17482078), rs10050860 (https://www.ncbi.nlm.nih.gov/snp/rs10050860), rs30187 (https://www.ncbi.nlm.nih.gov/snp/rs30187), rs2549782 (https://www.ncbi.nlm.nih.gov/snp/rs2549782), rs2248374 (https://www.ncbi.nlm.nih.gov/snp/rs2248374), rs2910686 (https://www.ncbi.nlm.nih.gov/snp/rs2910686).
†Nucleotide variants coloured in red.
dbSNP, Single Nucleotide Polymorphism Database; ERAP, endoplasmic reticulum aminopeptidase; HLA, human leukocyte antigen; SpA, spondyloarthritis.