Product Details

SNP ID
rs140514652
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:47786562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGATATGTCCTTTACATGTCTTCT[A/G]GACGAAAGAAGAAGCTGAGACCCGC
Phenotype
MIM: 609042
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
OPN5 PubMed Links

Gene Details

Gene
OPN5
Gene Name
opsin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181744.3 208 Missense Mutation AGA,GGA R60G NP_859528.1
XM_017010409.1 208 Intron XP_016865898.1
XM_017010410.1 208 Missense Mutation AGA,GGA R4G XP_016865899.1
XM_017010411.1 208 Missense Mutation AGA,GGA R4G XP_016865900.1
XM_017010412.1 208 Intron XP_016865901.1
XM_017010413.1 208 Intron XP_016865902.1
XM_017010414.1 208 Intron XP_016865903.1
XM_017010415.1 208 Intron XP_016865904.1
XM_017010416.1 208 Missense Mutation AGA,GGA R60G XP_016865905.1

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