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ACACTCTCTCGTCGGCTTCGCCACT[A/C]GGGTGCTGCACGTGATTGAGGGCGC
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
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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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BLOC1S4 - biogenesis of lysosomal organelles complex 1 subunit 4 | ||||||
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There are no transcripts associated with this gene. |
MRFAP1L1 - Morf4 family associated protein 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203462.2 | 505 | Silent Mutation | NP_982287.1 | |||
XM_005247932.1 | 505 | Silent Mutation | XP_005247989.1 |