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GCTAGAGCGGGCCTGGCCGGCCGGC[T/C]AGCCCTCCCCGCTGGACGCCTTCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607522 | ||||||||||||||||||||
Literature Links: |
C10orf76 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 |
C10orf76 - chromosome 10 open reading frame 76 | ||||||
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There are no transcripts associated with this gene. |
HPS6 - HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024747.5 | 331 | Nonsense Mutation | CAG,TAG | Q,* 75 | NP_079023.2 |