Product Details

SNP ID
rs142212892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:64043996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGGGCCGCCCTCGCTCAGAGGG[C/T]GTCTGGAGTCACTGGGGGCTGGGGC
Phenotype
MIM: 604033
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERN1 PubMed Links

Gene Details

Gene
ERN1
Gene Name
endoplasmic reticulum to nucleus signaling 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001433.3 4291 Missense Mutation ACC,GCC T976A NP_001424.3
XM_017024347.1 4291 Missense Mutation ACC,GCC T1013A XP_016879836.1
XM_017024348.1 4291 Missense Mutation ACC,GCC T979A XP_016879837.1

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