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TGGAGAAAGTCCAATACCTCACTCG[C/T]TCAGCTATAAGAAGAGCCTCAACCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 172405 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEP85L 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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CEP85L - centrosomal protein 85 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042475.2 | 254 | Intron | NP_001035940.1 | |||
NM_001178035.1 | 254 | Intron | NP_001171506.1 | |||
NM_206921.2 | 254 | Intron | NP_996804.2 | |||
XM_005266970.1 | 254 | Intron | XP_005267027.1 | |||
XM_005266971.1 | 254 | Intron | XP_005267028.1 | |||
XM_005266972.4 | 254 | Intron | XP_005267029.1 | |||
XM_006715475.3 | 254 | Intron | XP_006715538.1 | |||
XM_011535809.2 | 254 | Intron | XP_011534111.1 | |||
XM_011535810.2 | 254 | Intron | XP_011534112.1 | |||
XM_011535811.1 | 254 | Intron | XP_011534113.1 | |||
XM_017010846.1 | 254 | Intron | XP_016866335.1 | |||
XM_017010847.1 | 254 | Intron | XP_016866336.1 |
PLN - phospholamban | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002667.4 | 254 | Silent Mutation | CGC,CGT | R,R 9 | NP_002658.1 |