Product Details

SNP ID
rs146808238
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:47782157 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTTTGCTTCCAAACTTTCTTGG[A/G]AAGCGGATTTAGTGGCTGGCTTTTA
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_181744.3 121 Missense Mutation AAA,GAA K31E NP_859528.1
XM_017010409.1 121 Intron XP_016865898.1
XM_017010410.1 121 Intron XP_016865899.1
XM_017010411.1 121 Intron XP_016865900.1
XM_017010412.1 121 Intron XP_016865901.1
XM_017010413.1 121 Intron XP_016865902.1
XM_017010414.1 121 Intron XP_016865903.1
XM_017010415.1 121 Intron XP_016865904.1
XM_017010416.1 121 Missense Mutation AAA,GAA K31E XP_016865905.1

View Full Product Details