Product Details

SNP ID
rs200261270
Assay Type
Functionally Tested
NCBI dbSNP Submissions
8
Location
Chr.1:152107697 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCGCCCGGTACTGCCGGTCTCG[C/G]TCCTGCCGCAGCCTCTGCTCTTGTT
Phenotype
MIM: 190370
Polymorphism
C/G, Transversion 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 5615 Missense Mutation GAC,GAG D1840E NP_009044.2

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