Product Details

SNP ID
rs201507732
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:152107440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGTACTCATAGAGAGGGCTGGAG[C/T]GCACTGGGACACTGGCAAACTGATG
Phenotype
MIM: 190370
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TCHH PubMed Links

Gene Details

Gene
TCHH
Gene Name
trichohyalin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007113.3 5872 Missense Mutation CAC,CGC H1926R NP_009044.2

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