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GCCGCGTGGCCAGGATGGAGGAGCA[A/G]GTCACCAAGGCCGAGGCCGAGCTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605695 | ||||||||||||||||||||
Literature Links: |
BLOC1S4 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 |
BLOC1S4 - biogenesis of lysosomal organelles complex 1 subunit 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018366.2 | 560 | Silent Mutation | CAA,CAG | Q,Q 155 | NP_060836.1 |
MRFAP1L1 - Morf4 family associated protein 1 like 1 | ||||||
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There are no transcripts associated with this gene. |