Product Details

SNP ID

hCV27841498

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123671125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGGTGGTTGCCATAGCTCCGGGC[A/G]TTCGCTTGCAAGATGGCGGCGGCGG

Phenotype

MIM: 601750 MIM: 613846

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GTF2H3 PubMed Links

Additional Information

For this assay, SNP(s) [rs78846567] 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

GTF2H3

Gene Name

general transcription factor IIH subunit 3

There are no transcripts associated with this gene.

Gene

TCTN2

Gene Name

tectonic family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143850.2	13	UTR 5			NP_001137322.1
NM_024809.4	13	UTR 5			NP_079085.2

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