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SNP ID: rs1045944
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:62690435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAGGTTCAGAGCTGCCCAGAGTCT[C/T]TAGGACAGGGGCAGAAGCAGAAGCA
Phenotype: MIM: 606158
Polymorphism: C/T, 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	1833	Missense Mutation	AAG,GAG	K441E	NP_001116427.1
NM_001130702.2	1833	UTR 3			NP_001124174.2
NM_032667.6	1833	Missense Mutation	AAG,GAG	K377E	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	1833	Intron			NP_981967.1

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