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ACCTCCAACTGTGTTCCTAAAGTTC[A/G]TCTTTCGCTTGGCTCAGGACAAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 112266 MIM: 616412 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BLOC1S5-TXNDC5 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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BLOC1S5-TXNDC5 - BLOC1S5-TXNDC5 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
BMP6 - bone morphogenetic protein 6 | ||||||
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There are no transcripts associated with this gene. |
TXNDC5 - thioredoxin domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145549.2 | 1328 | Silent Mutation | GAC,GAT | D,D 322 | NP_001139021.1 | |
NM_030810.3 | 1328 | Silent Mutation | GAC,GAT | D,D 430 | NP_110437.2 |
Set Membership: |
HapMap |