Product Details

SNP ID
rs200296556
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:233318768 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTTAGATGGTGTCGTGTTGGTT[C/G]ATCCTGATCTTGTGAAGGGAAAGAA
Phenotype
MIM: 181031
Polymorphism
C/G, Transversion 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_000541.4 231 Missense Mutation CAT,GAT H52D NP_000532.2
XM_011511593.2 231 Intron XP_011509895.1
XM_011511594.1 231 Intron XP_011509896.1
XM_011511596.1 231 Intron XP_011509898.1
XM_017004641.1 231 Missense Mutation CAT,GAT H52D XP_016860130.1
XM_017004642.1 231 Missense Mutation CAT,GAT H52D XP_016860131.1
XM_017004643.1 231 Missense Mutation CAT,GAT H52D XP_016860132.1

View Full Product Details