Product Details

SNP ID
rs3745433
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54419257 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCGGGTCCAAGATCCCCTCGCCC[A/G]GGGGAGGCTGCGTCACCTGGAGCTG
Phenotype
MIM: 605784
Polymorphism
A/G, 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_001005367.2 378 Missense Mutation AGG,GGG R86G NP_001005367.1
NM_001201461.1 378 Missense Mutation AGG,GGG R86G NP_001188390.1
NM_020659.3 378 Missense Mutation AGG,GGG R86G NP_065710.1
XM_017027025.1 378 UTR 5 XP_016882514.1
XM_017027026.1 378 UTR 5 XP_016882515.1

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