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TACATGTGATGTGTCATATTACAGA[C/T]GGGGTCACAGTGGTTATAAAGAGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602690 MIM: 606659 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C11orf57 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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C11orf57 - chromosome 11 open reading frame 57 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001082969.1 | 486 | Missense Mutation | CGG,TGG | R,W 108 | NP_001076438.1 | |
NM_001082970.1 | 486 | Missense Mutation | CGG,TGG | R,W 108 | NP_001076439.1 | |
NM_001301017.1 | 486 | Missense Mutation | CGG,TGG | R,W 108 | NP_001287946.1 | |
NM_001301019.1 | 486 | Missense Mutation | CGG,TGG | R,W 79 | NP_001287948.1 | |
NM_001301021.1 | 486 | Missense Mutation | CGG,TGG | R,W 79 | NP_001287950.1 | |
NM_018195.3 | 486 | Missense Mutation | CGG,TGG | R,W 108 | NP_060665.3 |
PIH1D2 - PIH1 domain containing 2 | ||||||
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There are no transcripts associated with this gene. |
SDHD - succinate dehydrogenase complex subunit D | ||||||
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There are no transcripts associated with this gene. |
TIMM8B - translocase of inner mitochondrial membrane 8 homolog B | ||||||
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There are no transcripts associated with this gene. |