Product Details

SNP ID

rs13194997

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:158168576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGGGCCGCACGGCAGTCCCCCC[C/T]TCGTTTAATCGTGGGTTTCCTGTGG

Phenotype

MIM: 608780 MIM: 614725

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GTF2H5 PubMed Links

Additional Information

For this assay, SNP(s) [rs148023066] 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

GTF2H5

Gene Name

general transcription factor IIH subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207118.2		Intron			NP_997001.1
XM_017010862.1		Intron			XP_016866351.1

Gene

SERAC1

Gene Name

serine active site containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032861.3		Intron			NP_116250.3
XM_006715586.2		Intron			XP_006715649.1
XM_011536196.2		Intron			XP_011534498.1
XM_011536198.2		Intron			XP_011534500.1

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