Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191329 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDZD9 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) - 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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PDZD9 - PDZ domain containing 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173806.3 | 908 | Intron | NP_776167.2 | |||
XM_006721029.3 | 908 | Intron | XP_006721092.1 | |||
XM_011545785.2 | 908 | Intron | XP_011544087.1 | |||
XM_017023109.1 | 908 | Intron | XP_016878598.1 | |||
XM_017023110.1 | 908 | Intron | XP_016878599.1 |
UQCRC2 - ubiquinol-cytochrome c reductase core protein II | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003366.3 | 908 | Missense Mutation | CAG,CGG | Q,R 183 | NP_003357.2 |
Set Membership: |
HapMap Validated |