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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