Product Details

SNP ID
rs144995754
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:128773781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCATGTACATGGCGAAGGCCGC[A/G]TAGGGCACGTAGCAGACACAGAAGG
Phenotype
MIM: 603420 MIM: 613522
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CALU PubMed Links

Gene Details

Gene
CALU
Gene Name
calumenin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130674.2 795 Intron NP_001124146.1
NM_001199671.1 795 Intron NP_001186600.1
NM_001199672.1 795 Intron NP_001186601.1
NM_001199673.1 795 Intron NP_001186602.1
NM_001219.4 795 Intron NP_001210.1
XM_017012659.1 795 Intron XP_016868148.1
Gene
OPN1SW
Gene Name
opsin 1 (cone pigments), short-wave-sensitive
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001708.2 795 Silent Mutation TAC,TAT Y265Y NP_001699.1

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