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AGATATGAGCCCCAGACTGACATCC[C/T]GCCTGACGTGGATACTGAACAGGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616787 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLUAP1 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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CLUAP1 - clusterin associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015041.2 | 296 | Missense Mutation | CCG,CTG | P,L 53 | NP_055856.1 | |
NM_024793.2 | 296 | Intron | NP_079069.1 | |||
XM_006720867.3 | 296 | UTR 5 | XP_006720930.1 | |||
XM_017023068.1 | 296 | Missense Mutation | CCG,CTG | P,L 80 | XP_016878557.1 | |
XM_017023069.1 | 296 | Missense Mutation | CCG,CTG | P,L 80 | XP_016878558.1 | |
XM_017023070.1 | 296 | Missense Mutation | CCG,CTG | P,L 53 | XP_016878559.1 | |
XM_017023071.1 | 296 | Missense Mutation | CCG,CTG | P,L 42 | XP_016878560.1 | |
XM_017023072.1 | 296 | Missense Mutation | CCG,CTG | P,L 42 | XP_016878561.1 | |
XM_017023073.1 | 296 | UTR 5 | XP_016878562.1 |