Product Details

SNP ID
rs147851878
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54421347 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGTGTCCCAGCTCAGCTCTGCG[C/T]TGCTGCACGCCAACCACACACTCAG
Phenotype
MIM: 605784
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TTYH1 PubMed Links

Gene Details

Gene
TTYH1
Gene Name
tweety family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005367.2 498 Silent Mutation CTG,TTG L126L NP_001005367.1
NM_001201461.1 498 Silent Mutation CTG,TTG L126L NP_001188390.1
NM_020659.3 498 Silent Mutation CTG,TTG L126L NP_065710.1
XM_017027025.1 498 Silent Mutation CTG,TTG L41L XP_016882514.1
XM_017027026.1 498 Silent Mutation CTG,TTG L41L XP_016882515.1

View Full Product Details