Product Details

SNP ID

rs199534441

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30914940 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGTTTCTACACAGTCGGAGCCCC[A/G]TGGATCTCCCATCTCCCGGAGGAAC

Phenotype

MIM: 601760 MIM: 612802

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GTF2H4 PubMed Links

Additional Information

For this assay, SNP(s) [rs6926224] are located under a primer 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

GTF2H4

Gene Name

general transcription factor IIH subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001517.4	268	Intron			NP_001508.1

Gene

VARS2

Gene Name

valyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167733.2	268	Intron			NP_001161205.1
NM_001167734.1	268	Missense Mutation	CAT,CGT	H65R	NP_001161206.1
NM_020442.5	268	Missense Mutation	CAT,CGT	H35R	NP_065175.4

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