Product Details

SNP ID

rs140676897

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62691116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCTTCGTTGGACTTCCTTCCGG[A/G]AATTGTCTCTTTTTCGGATGTTAAC

Phenotype

MIM: 606158

Polymorphism

A/G, Transition 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_001122955.3	1543	Missense Mutation	TCC,TTC	S344F	NP_001116427.1
NM_001130702.2	1543	Missense Mutation	CCC,TCC	P233S	NP_001124174.2
NM_032667.6	1543	Missense Mutation	TCC,TTC	S280F	NP_116056.3

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

There are no transcripts associated with this gene.

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