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GGGCTAATTTCCTAACTTCTTTTAC[A/G]TGAGAAAAAAACAACCCACCCTGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607289 MIM: 609206 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLOC1S5 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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BLOC1S5 - biogenesis of lysosomal organelles complex 1 subunit 5 | ||||||
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There are no transcripts associated with this gene. |
BLOC1S5-TXNDC5 - BLOC1S5-TXNDC5 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
EEF1E1 - eukaryotic translation elongation factor 1 epsilon 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135650.1 | Intron | NP_001129122.1 | ||||
NM_004280.4 | Intron | NP_004271.1 |
EEF1E1-BLOC1S5 - EEF1E1-BLOC1S5 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |