Product Details

SNP ID
rs199876317
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14917210 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAGAGCTTGGCTGCCTTCTGGT[A/G]TCTGTGCATGTTCTCTTCATACTCT
Phenotype
MIM: 610642
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ERP27 PubMed Links

Gene Details

Gene
ERP27
Gene Name
endoplasmic reticulum protein 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300784.1 585 Missense Mutation CAC,TAC H81Y NP_001287713.1
NM_152321.3 585 Missense Mutation CAC,TAC H182Y NP_689534.1

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