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Search Thermo Fisher Scientific
CTTGTTTCGGTTGTTTCGGCGATTT[G/T]TCCGCTTCTCGGAGGGGGGCAGAAG
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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
BSCL2 - BSCL2, seipin lipid droplet biogenesis associated | ||||||
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There are no transcripts associated with this gene. |
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079559.2 | 2148 | Missense Mutation | AAA,ACA | K,T 640 | NP_001073027.1 |
HNRNPUL2-BSCL2 - HNRNPUL2-BSCL2 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |