Product Details

SNP ID
rs184702109
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109903059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGACGCTGCCGTCCTACTGGTG[C/G]AGCCAGCAGCGCCTGAATCAGCAGC
Phenotype
MIM: 612654
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TCHP PubMed Links

Gene Details

Gene
TCHP
Gene Name
trichoplein keratin filament binding
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143852.1 210 Missense Mutation TGC,TGG C11W NP_001137324.1
NM_032300.4 210 Missense Mutation TGC,TGG C11W NP_115676.1
XM_011538836.2 210 Missense Mutation TGC,TGG C11W XP_011537138.1
XM_011538837.2 210 Missense Mutation TGC,TGG C11W XP_011537139.1
XM_017020024.1 210 Missense Mutation TGC,TGG C11W XP_016875513.1
XM_017020025.1 210 UTR 5 XP_016875514.1

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