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TAAACTCTGACATCACCTGAGAGTA[C/T]GGAGGAGCACTGTTGCAGTCAGAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601444 MIM: 155740 MIM: 601617 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLOC1S1 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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BLOC1S1 - biogenesis of lysosomal organelles complex 1 subunit 1 | ||||||
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There are no transcripts associated with this gene. |
BLOC1S1-RDH5 - BLOC1S1-RDH5 readthrough | ||||||
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There are no transcripts associated with this gene. |
CD63 - CD63 molecule | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257389.1 | Intron | NP_001244318.1 | ||||
NM_001257390.1 | Intron | NP_001244319.1 | ||||
NM_001257391.1 | Intron | NP_001244320.1 | ||||
NM_001257392.1 | Intron | NP_001244321.1 | ||||
NM_001257400.1 | Intron | NP_001244329.1 | ||||
NM_001257401.1 | Intron | NP_001244330.1 | ||||
NM_001267698.1 | Intron | NP_001254627.1 | ||||
NM_001780.5 | Intron | NP_001771.1 |
RDH5 - retinol dehydrogenase 5 | ||||||
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There are no transcripts associated with this gene. |