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TGCTCGGGCCAACGCCACTGCCTGT[C/T]GCTGACCCCCTGACAGCTGGCTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 177046 MIM: 177045 MIM: 170260 MIM: 170261 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
PSMB8 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
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Japanese
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CHB (Han Chinese) - Not Available | |||||||||
AFR
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Chinese
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JPT (Japanese) - Not Available | |||||||||
EUR
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AMR
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PSMB8 - proteasome subunit beta 8 | ||||||
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There are no transcripts associated with this gene. |
PSMB8-AS1 - PSMB8 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |
PSMB9 - proteasome subunit beta 9 | ||||||
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There are no transcripts associated with this gene. |
TAP1 - transporter 1, ATP binding cassette subfamily B member | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000593.5 | 2278 | Missense Mutation | CAA,CGA | Q,R 708 | NP_000584.2 | |
NM_001292022.1 | 2278 | Missense Mutation | CAA,CGA | Q,R 447 | NP_001278951.1 |
TAP2 - transporter 2, ATP binding cassette subfamily B member | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap DME Validated Inventoried |