Product Details

SNP ID

rs6856

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62690803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCCATACCTGTCCCTGAGGGATC[C/T]TCAGGGCTCTCACCATCCTCTGTAA

Phenotype

MIM: 606158

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BSCL2 PubMed Links

Additional Information

For this assay, SNP(s) [rs76184645] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1649	Silent Mutation	GAA,GAG	E379E	NP_001116427.1
NM_001130702.2	1649	Missense Mutation	AAG,AGG	K268R	NP_001124174.2
NM_032667.6	1649	Silent Mutation	GAA,GAG	E315E	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203422.3	1649	Intron			NP_981967.1

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