Product Details

SNP ID

rs191648244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62688163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCGCTGCCGTCCCAAAGCAGCA[A/G]CCAGTAGTGGAGGACCGGGGAGAAG

Phenotype

MIM: 606158 MIM: 616378

Polymorphism

A/G, Transition 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	824	Silent Mutation	CTG,TTG	L116L	NP_981967.1

Gene

UBXN1

Gene Name

UBX domain protein 1

There are no transcripts associated with this gene.

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