Product Details

SNP ID

rs112311529

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62690369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGAGGAGTCTGCCCCTTTTCTTC[A/T]GGAACTAGAGCAGGTGGGGCGCTGT

Phenotype

MIM: 606158

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

BSCL2 PubMed Links

Gene Details

Gene

BSCL2

Gene Name

BSCL2, seipin lipid droplet biogenesis associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130702.2	1271	UTR 3			NP_001124174.2

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	1271	Intron			NP_981967.1

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