Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTAAACTTTTAAAACAAATACCTCT[A/G]GAGGTCTTCAGGTCCTAATACCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614310 | ||||||||||||||||||||
Literature Links: |
CEP70 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CEP70 - centrosomal protein 70 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288964.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 532 | NP_001275893.1 | |
NM_001288965.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 530 | NP_001275894.1 | |
NM_001288966.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | NP_001275895.1 | |
NM_001288967.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 398 | NP_001275896.1 | |
NM_001320598.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | NP_001307527.1 | |
NM_001320599.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | NP_001307528.1 | |
NM_001320600.1 | 2013 | Intron | NP_001307529.1 | |||
NM_024491.3 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | NP_077817.2 | |
XM_005247805.3 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | XP_005247862.1 | |
XM_011513209.2 | 2013 | Intron | XP_011511511.1 | |||
XM_017007270.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | XP_016862759.1 | |
XM_017007271.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | XP_016862760.1 | |
XM_017007272.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | XP_016862761.1 | |
XM_017007273.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 530 | XP_016862762.1 | |
XM_017007274.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 530 | XP_016862763.1 | |
XM_017007275.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 550 | XP_016862764.1 | |
XM_017007276.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 432 | XP_016862765.1 | |
XM_017007277.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 398 | XP_016862766.1 | |
XM_017007278.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 374 | XP_016862767.1 | |
XM_017007279.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 324 | XP_016862768.1 | |
XM_017007280.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 291 | XP_016862769.1 | |
XM_017007281.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 291 | XP_016862770.1 | |
XM_017007282.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 291 | XP_016862771.1 | |
XM_017007283.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 291 | XP_016862772.1 | |
XM_017007284.1 | 2013 | Nonsense Mutation | CAG,TAG | Q,* 291 | XP_016862773.1 |