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TATGTCTACCAGGATTTCAGATGAT[C/T]TCTAATAATGGAGGACCTGCTATTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609884 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TMEM67 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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TMEM67 - transmembrane protein 67 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142301.1 | 332 | Intron | NP_001135773.1 | |||
NM_153704.5 | 332 | Silent Mutation | ATC,ATT | I,I 87 | NP_714915.3 | |
XM_006716686.3 | 332 | Intron | XP_006716749.1 | |||
XM_011517363.2 | 332 | Silent Mutation | ATC,ATT | I,I 87 | XP_011515665.1 |