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CAGGCCTGGGAAAGCCTGTCTGGTC[C/T]TGTCACCCCAGGTGACAAATACAAC
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 - 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 |
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 | 2216 | UTR 3 | NP_001139021.1 | |||
NM_030810.3 | 2216 | UTR 3 | NP_110437.2 |