Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGTACATGGCGAAGGCCGCGTAGG[G/A]CACGTAGCAGACACAGAAGGATCCT
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 |
---|---|---|
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 |
CALU - calumenin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130674.2 | 790 | Intron | NP_001124146.1 | |||
NM_001199671.1 | 790 | Intron | NP_001186600.1 | |||
NM_001199672.1 | 790 | Intron | NP_001186601.1 | |||
NM_001199673.1 | 790 | Intron | NP_001186602.1 | |||
NM_001219.4 | 790 | Intron | NP_001210.1 | |||
XM_017012659.1 | 790 | 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 | 790 | Missense Mutation | CCC,TCC | P,S 264 | NP_001699.1 |