Product Details

SNP ID
rs199757939
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54419203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTTCATCGCTGTCTACCTCATC[C/T]GCTTCTGCTGCTGCCGGCCCCCCGA
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_001005367.2 324 Missense Mutation CGC,TGC R68C NP_001005367.1
NM_001201461.1 324 Missense Mutation CGC,TGC R68C NP_001188390.1
NM_020659.3 324 Missense Mutation CGC,TGC R68C NP_065710.1
XM_017027025.1 324 UTR 5 XP_016882514.1
XM_017027026.1 324 UTR 5 XP_016882515.1

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