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GGCCTGGTCCCATTCTGAAAAAGTG[A/G]GAACACCCTGCCTTCTCTTCAGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 610142 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEP290 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
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CEP290 - centrosomal protein 290 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_025114.3 | Intron | NP_079390.3 | ||||
XM_011538756.2 | Intron | XP_011537058.1 | ||||
XM_011538757.2 | Intron | XP_011537059.1 | ||||
XM_011538758.2 | Intron | XP_011537060.1 | ||||
XM_011538759.2 | Intron | XP_011537061.1 | ||||
XM_011538760.1 | Intron | XP_011537062.1 | ||||
XM_011538761.1 | Intron | XP_011537063.1 | ||||
XM_011538762.2 | Intron | XP_011537064.1 | ||||
XM_011538763.2 | Intron | XP_011537065.1 | ||||
XM_011538764.2 | Intron | XP_011537066.1 | ||||
XM_011538765.2 | Intron | XP_011537067.1 | ||||
XM_011538766.2 | Intron | XP_011537068.1 | ||||
XM_017019980.1 | Intron | XP_016875469.1 | ||||
XM_017019981.1 | Intron | XP_016875470.1 | ||||
XM_017019982.1 | Intron | XP_016875471.1 | ||||
XM_017019983.1 | Intron | XP_016875472.1 |
TMTC3 - transmembrane and tetratricopeptide repeat containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181783.3 | Intron | NP_861448.2 | ||||
XM_011537980.2 | Intron | XP_011536282.1 | ||||
XM_011537981.2 | Intron | XP_011536283.1 |