Product Details

SNP ID

rs199913167

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109903041 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTTCTCAGATGGCGCTCCCGAC[A/G]CTGCCGTCCTACTGGTGCAGCCAGC

Phenotype

MIM: 612654

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

TCHP PubMed Links

Additional Information

For this assay, SNP(s) [rs11539159] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	192	Silent Mutation	ACA,ACG	T5T	NP_001137324.1
NM_032300.4	192	Silent Mutation	ACA,ACG	T5T	NP_115676.1
XM_011538836.2	192	Silent Mutation	ACA,ACG	T5T	XP_011537138.1
XM_011538837.2	192	Silent Mutation	ACA,ACG	T5T	XP_011537139.1
XM_017020024.1	192	Silent Mutation	ACA,ACG	T5T	XP_016875513.1
XM_017020025.1	192	UTR 5			XP_016875514.1

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