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AGGCTCCCTCGGTCGCGAGTATCTC[C/T]GTTTCCTGGATGTGAACGTGAGTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612898 MIM: 610727 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COQ4 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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COQ4 - coenzyme Q4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001305942.1 | 639 | Silent Mutation | TCC,TCT | S,S 96 | NP_001292871.1 | |
NM_016035.4 | 639 | Missense Mutation | CGT,TGT | R,C 129 | NP_057119.2 | |
XM_017014792.1 | 639 | Silent Mutation | TCC,TCT | S,S 96 | XP_016870281.1 | |
XM_017014793.1 | 639 | Silent Mutation | TCC,TCT | S,S 96 | XP_016870282.1 |
TRUB2 - TruB pseudouridine synthase family member 2 | ||||||
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There are no transcripts associated with this gene. |