Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCCTGACCCCCTCCGGGGCCGAGG[A/C]CCTGCAGCGGGTGGCCTCCTCCCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601444 MIM: 155740 MIM: 600536 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) - 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) - 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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There are no transcripts associated with this gene. |
ITGA7 - integrin subunit alpha 7 | ||||||
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There are no transcripts associated with this gene. |
RDH5 - retinol dehydrogenase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199771.1 | 383 | Missense Mutation | GAC,GCC | D,A 67 | NP_001186700.1 | |
NM_002905.3 | 383 | Missense Mutation | GAC,GCC | D,A 67 | NP_002896.2 |