Product Details

SNP ID
rs80027400
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62688191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAGTGGAGGACCGGGGAGAAGGG[G/T]GCACACCAGTGGACCACTGCGCGGC
Phenotype
MIM: 606158 MIM: 616378
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
BSCL2 PubMed Links

Gene Details

Gene
BSCL2
Gene Name
BSCL2, seipin lipid droplet biogenesis associated
There are no transcripts associated with this gene.

Gene
HNRNPUL2-BSCL2
Gene Name
HNRNPUL2-BSCL2 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
LRRN4CL
Gene Name
LRRN4 C-terminal like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_203422.3 796 Silent Mutation GCA,GCC A106A NP_981967.1
Gene
UBXN1
Gene Name
UBX domain protein 1
There are no transcripts associated with this gene.

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