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ACCCGGGTTGAGAGGAGCTCTGGTC[C/G]TTTGGCTGCAGCTGGGAGAGACTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138720 MIM: 602724 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GP1BB 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) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
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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GP1BB - glycoprotein Ib platelet beta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000407.4 | Intron | NP_000398.1 |
SEPT5 - septin 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009939.2 | Intron | NP_001009939.1 | ||||
NM_002688.5 | Intron | NP_002679.2 |
SEPT5-GP1BB - SEPT5-GP1BB readthrough | ||||||
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There are no transcripts associated with this gene. |