Product Details

SNP ID
rs2294086
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123015061 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATGTGGGGGTTGGGAAAAGTGGGAG[A/G]GAGGCATGTGTGCAAGAAAGAGATA
Phenotype
MIM: 608813
Polymorphism
A/G, 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 1243 UTR 3 NP_001128143.1
NM_024295.5 1243 UTR 3 NP_077271.1
XM_006716657.1 1243 UTR 3 XP_006716720.1
XM_011517299.1 1243 UTR 3 XP_011515601.1

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