Product Details

SNP ID
rs200078242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:233309220 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCAGCGGGAAGACCAGCAAGTCC[A/G]AACCGAACCATGTTATCTTCAAGAA
Phenotype
MIM: 181031
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SAG PubMed Links

Gene Details

Gene
SAG
Gene Name
S-antigen visual arrestin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000541.4 108 Missense Mutation AAA,GAA K11E NP_000532.2
XM_011511593.2 108 Intron XP_011509895.1
XM_011511594.1 108 Intron XP_011509896.1
XM_011511596.1 108 Intron XP_011509898.1
XM_017004641.1 108 Missense Mutation AAA,GAA K11E XP_016860130.1
XM_017004642.1 108 Missense Mutation AAA,GAA K11E XP_016860131.1
XM_017004643.1 108 Missense Mutation AAA,GAA K11E XP_016860132.1

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