Product Details

SNP ID

rs201148604

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:152107795 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTGGGGGCGCAGCTGCTGTTCTT[C/T]CCTCTCCTGGCGTAGCTGTTCCTCC

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	5517	Missense Mutation	AAA,GAA	K1808E	NP_009044.2

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