Product Details

SNP ID
rs149612586
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14915507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTACCAACAATTTTCCACTTAG[A/G]AATCCATCACAAAAGTTTTGCACAT
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_001300784.1 797 Silent Mutation TTC,TTT F151F NP_001287713.1
NM_152321.3 797 Silent Mutation TTC,TTT F252F NP_689534.1

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