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- SNP ID:
- rs1043784
- Gene
-
BLOC1S5-TXNDC5BMP6TXNDC5 - Gene Name
- Set Membership:
- > HapMap
- Chromosome Location:
- Chr.6: 7881698 - 7881698 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
TAAAAAAAGAATTATCTGTGAACCA[C/T]ACGTGATTAATAAAGATTTCCTTTA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 112266
MIM: 616412
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Literature Links: |
BLOC1S5-TXNDC5 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
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 | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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| BLOC1S5-TXNDC5 - BLOC1S5-TXNDC5 readthrough (NMD candidate) | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| BMP6 - bone morphogenetic protein 6 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| TXNDC5 - thioredoxin domain containing 5 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001145549.2 | 2783 | UTR 3 | NP_001139021.1 | |||
| NM_030810.3 | 2783 | UTR 3 | NP_110437.2 | |||
Back To TopMore Information
Set Membership: |
HapMap
|
Panther Classification:
Gene Ontology Categories:
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