Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCCTTGCGTTCCTAGCTGCTCTGC[C/T]ACCTGGACGCCACCCCTGGCCATGG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606158 MIM: 608941 | |||||||||||||||||||||||||||||||||||||||||
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)
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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 | 645 | Missense Mutation | AGC,GGC | S,G 45 | NP_001116427.1 | |
NM_001130702.2 | 645 | UTR 5 | NP_001124174.2 | |||
NM_032667.6 | 645 | UTR 5 | NP_116056.3 |
GNG3 - G protein subunit gamma 3 | ||||||
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There are no transcripts associated with this gene. |
HNRNPUL2 - heterogeneous nuclear ribonucleoprotein U like 2 | ||||||
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There are no transcripts associated with this gene. |
HNRNPUL2-BSCL2 - HNRNPUL2-BSCL2 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |