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ATCGAAGCCTAGTAACTCCAAATCC[A/G]AAACTACATTAGAAAAATTAAAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610000 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEP55 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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CEP55 - centrosomal protein 55 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127182.1 | 377 | Missense Mutation | AAA,GAA | K,E 24 | NP_001120654.1 | |
NM_018131.4 | 377 | Missense Mutation | AAA,GAA | K,E 24 | NP_060601.3 | |
XM_011539918.1 | 377 | UTR 5 | XP_011538220.1 | |||
XM_011539919.1 | 377 | Intron | XP_011538221.1 | |||
XM_011539920.2 | 377 | Intron | XP_011538222.1 | |||
XM_017016372.1 | 377 | Intron | XP_016871861.1 | |||
XM_017016373.1 | 377 | Intron | XP_016871862.1 |