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TCAGAAAATGCAACAGCGAAAGACA[T/C]TGCCCCTACTTTAACACTCTATGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 140210 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPR 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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HPR - haptoglobin-related protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020995.3 | 506 | Missense Mutation | ACT,ATT | T,I 159 | NP_066275.3 |
TXNL4B - thioredoxin like 4B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142317.1 | 506 | Intron | NP_001135789.1 | |||
NM_001142318.1 | 506 | Intron | NP_001135790.1 | |||
NM_001324354.1 | 506 | Intron | NP_001311283.1 | |||
NM_001324355.1 | 506 | Intron | NP_001311284.1 | |||
NM_017853.2 | 506 | Intron | NP_060323.1 | |||
XM_017023377.1 | 506 | Intron | XP_016878866.1 |