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CCAGAGTCCTTTTGTCCTGCGGTCC[A/G]TATAAGAGGGTCTGGATCTGGAGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606087 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SYNM 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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SYNM - synemin | ||||||
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There are no transcripts associated with this gene. |
TTC23 - tetratricopeptide repeat domain 23 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288615.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | NP_001275544.1 | |
NM_001288616.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | NP_001275545.1 | |
XM_011521927.2 | 1562 | Missense Mutation | CGG,TGG | R,W 463 | XP_011520229.1 | |
XM_011521929.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520231.1 | |
XM_011521930.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520232.1 | |
XM_011521931.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520233.1 | |
XM_011521932.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520234.1 | |
XM_011521933.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520235.1 | |
XM_011521934.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520236.1 | |
XM_011521935.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520237.1 | |
XM_011521936.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520238.1 | |
XM_011521937.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520239.1 | |
XM_011521939.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_011520241.1 | |
XM_011521940.2 | 1562 | Missense Mutation | CGG,TGG | R,W 438 | XP_011520242.1 | |
XM_011521941.2 | 1562 | Missense Mutation | ACG,ATG | T,M 415 | XP_011520243.1 | |
XM_011521943.2 | 1562 | Intron | XP_011520245.1 | |||
XM_011521944.2 | 1562 | UTR 3 | XP_011520246.1 | |||
XM_011521945.2 | 1562 | Intron | XP_011520247.1 | |||
XM_017022509.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_016877998.1 | |
XM_017022510.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_016877999.1 | |
XM_017022511.1 | 1562 | Missense Mutation | CGG,TGG | R,W 466 | XP_016878000.1 | |
XM_017022512.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878001.1 | |
XM_017022513.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878002.1 | |
XM_017022514.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878003.1 | |
XM_017022515.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878004.1 | |
XM_017022516.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878005.1 | |
XM_017022517.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878006.1 | |
XM_017022518.1 | 1562 | Silent Mutation | TAC,TAT | Y,Y 390 | XP_016878007.1 |