Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGTGGCTGCGCCATACCTGTCCCT[A/G]AGGGATCTTCAGGGCTCTCACCATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606158 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BSCL2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BSCL2 - BSCL2, seipin lipid droplet biogenesis associated | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122955.3 | 1657 | Missense Mutation | TCA,TTA | S,L 382 | NP_001116427.1 | |
NM_001130702.2 | 1657 | Nonsense Mutation | CAG,TAG | Q,* 271 | NP_001124174.2 | |
NM_032667.6 | 1657 | Missense Mutation | TCA,TTA | S,L 318 | NP_116056.3 |
HNRNPUL2-BSCL2 - HNRNPUL2-BSCL2 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
LRRN4CL - LRRN4 C-terminal like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203422.3 | 1657 | Intron | NP_981967.1 |