Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCGTCTCCGGACGGGGCCCTGACA[C/T]GGCCACCCTACTGCCTGGAGGCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604310 | ||||||||||||||||||||
Literature Links: |
BLOC1S6 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
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 |
BLOC1S6 - biogenesis of lysosomal organelles complex 1 subunit 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001311255.1 | 364 | Intron | NP_001298184.1 | |||
NM_001311256.1 | 364 | Intron | NP_001298185.1 | |||
NM_012388.3 | 364 | Missense Mutation | CGG,TGG | R,W 15 | NP_036520.1 |