Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCGCGTAGGGCACGTAGCAGACACA[C/G]AAGGATCCTACCATCACAACCACCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603420 MIM: 613522 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CALU 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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CALU - calumenin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130674.2 | 774 | Intron | NP_001124146.1 | |||
NM_001199671.1 | 774 | Intron | NP_001186600.1 | |||
NM_001199672.1 | 774 | Intron | NP_001186601.1 | |||
NM_001199673.1 | 774 | Intron | NP_001186602.1 | |||
NM_001219.4 | 774 | Intron | NP_001210.1 | |||
XM_017012659.1 | 774 | Intron | XP_016868148.1 |
OPN1SW - opsin 1 (cone pigments), short-wave-sensitive | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001708.2 | 774 | Missense Mutation | TTC,TTG | F,L 258 | NP_001699.1 |