Product Details

SNP ID
rs140015347
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:13850293 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGACTCGTTTGAGCAGCCATGTC[A/G]TACAATCTTCTGGCCAAGTGAATGT
Phenotype
MIM: 614289
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SEL1L2 PubMed Links

Gene Details

Gene
SEL1L2
Gene Name
SEL1L2 ERAD E3 ligase adaptor subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271539.1 1683 Silent Mutation NP_001258468.1
XM_006723646.2 1683 Silent Mutation XP_006723709.1
XM_006723647.2 1683 Silent Mutation XP_006723710.1
XM_006723648.2 1683 Silent Mutation XP_006723711.1
XM_006723650.2 1683 Nonsense Mutation XP_006723713.1
XM_006723651.2 1683 Nonsense Mutation XP_006723714.1
XM_006723652.2 1683 Silent Mutation XP_006723715.1
XM_006723654.3 1683 Silent Mutation XP_006723717.1
XM_006723655.2 1683 Intron XP_006723718.1
XM_006723656.2 1683 Intron XP_006723719.1
XM_011529374.1 1683 Silent Mutation XP_011527676.1
XM_011529375.1 1683 Silent Mutation XP_011527677.1
XM_011529376.1 1683 Silent Mutation XP_011527678.1
XM_011529377.1 1683 Silent Mutation XP_011527679.1
XM_011529378.1 1683 Silent Mutation XP_011527680.1
XM_011529379.1 1683 Nonsense Mutation XP_011527681.1
XM_017028084.1 1683 Silent Mutation XP_016883573.1

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