Product Details

SNP ID

rs200712527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62715507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAAGAAGATACTCACATCCCGA[C/T]TGTATTGTCTGTAATAGTCTCTGTA

Phenotype

MIM: 606158 MIM: 608941

Polymorphism

C/T, 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

GNG3

Gene Name

G protein subunit gamma 3

There are no transcripts associated with this gene.

Gene

HNRNPUL2

Gene Name

heterogeneous nuclear ribonucleoprotein U like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079559.2	2385	Missense Mutation	AAT,AGT	N719S	NP_001073027.1

Gene

HNRNPUL2-BSCL2

Gene Name

HNRNPUL2-BSCL2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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