Product Details

SNP ID
rs200334528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109903136 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCTTCGGCAGCAGTGGGAGCAGA[A/C]CAGCCGTTACTTCAGGATGTCTGAC
Phenotype
MIM: 612654
Polymorphism
A/C, 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_001143852.1 287 Missense Mutation AAC,ACC N37T NP_001137324.1
NM_032300.4 287 Missense Mutation AAC,ACC N37T NP_115676.1
XM_011538836.2 287 Missense Mutation AAC,ACC N37T XP_011537138.1
XM_011538837.2 287 Missense Mutation AAC,ACC N37T XP_011537139.1
XM_017020024.1 287 Missense Mutation AAC,ACC N37T XP_016875513.1
XM_017020025.1 287 UTR 5 XP_016875514.1

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