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GCAATGTTTTCTTGGCGTTTTTGCT[G/T]CTTCTTTTGCTCCTTCTCCCTGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609653 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTC-436P18.1 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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CTC-436P18.1 - uncharacterized LOC101928630 | ||||||
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There are no transcripts associated with this gene. |
NDUFAF2 - NADH:ubiquinone oxidoreductase complex assembly factor 2 | ||||||
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There are no transcripts associated with this gene. |
SMIM15 - small integral membrane protein 15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001048249.3 | 599 | Missense Mutation | AAG,CAG | K,Q 58 | NP_001041714.1 |