Product Details

SNP ID
rs71514794
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123015496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCCCCAGTTGTGTCTCCCGCCT[C/T]CGCCATTCTGATCAGCAGCTCGCCT
Phenotype
MIM: 608813
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DERL1 PubMed Links

Gene Details

Gene
DERL1
Gene Name
derlin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134671.2 808 Missense Mutation GAA,GGA E216G NP_001128143.1
NM_024295.5 808 Missense Mutation GAA,GGA E236G NP_077271.1
XM_006716657.1 808 Missense Mutation GAA,GGA E136G XP_006716720.1
XM_011517299.1 808 Missense Mutation GAA,GGA E136G XP_011515601.1

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