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CTACCTCCTTATGGATCGCCTTCTC[C/G]TTGAAATTAATCCCACAGCCCACAG
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 - 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 |
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 | 687 | Silent Mutation | AAC,AAG | N,K 182 | NP_001244318.1 | |
NM_001257390.1 | 687 | Silent Mutation | AAC,AAG | N,K 182 | NP_001244319.1 | |
NM_001257391.1 | 687 | Silent Mutation | AAC,AAG | N,K 182 | NP_001244320.1 | |
NM_001257392.1 | 687 | Silent Mutation | AAC,AAG | N,K 159 | NP_001244321.1 | |
NM_001257400.1 | 687 | Silent Mutation | AAC,AAG | N,K 100 | NP_001244329.1 | |
NM_001257401.1 | 687 | Silent Mutation | AAC,AAG | N,K 100 | NP_001244330.1 | |
NM_001267698.1 | 687 | Silent Mutation | AAC,AAG | N,K 182 | NP_001254627.1 | |
NM_001780.5 | 687 | Silent Mutation | AAC,AAG | N,K 182 | NP_001771.1 |
RDH5 - retinol dehydrogenase 5 | ||||||
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There are no transcripts associated with this gene. |