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CTGCGCTCAGGCACACACAGGCACC[A/G]TCCGATGACCCAGCGTTGCACGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123980 MIM: 610210 MIM: 611885 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYC1 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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CYC1 - cytochrome c1 | ||||||
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There are no transcripts associated with this gene. |
MAF1 - MAF1 homolog, negative regulator of RNA polymerase III | ||||||
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There are no transcripts associated with this gene. |
SHARPIN - SHANK associated RH domain interactor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030974.3 | 1304 | Missense Mutation | CGG,TGG | R,W 274 | NP_112236.3 | |
XM_017013887.1 | 1304 | Missense Mutation | CGG,TGG | R,W 274 | XP_016869376.1 | |
XM_017013888.1 | 1304 | Missense Mutation | CGG,TGG | R,W 274 | XP_016869377.1 |
WDR97 - WD repeat domain 97 | ||||||
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There are no transcripts associated with this gene. |