Product Details

SNP ID

rs138805281

Assay Type

Functionally Tested

NCBI dbSNP Submissions

16

Location

Chr.1:88857300 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCCTCCCAGGAACCAAGTCCAG[A/T]TCCACAGCTTTACGGGCTATATGTG

Phenotype

MIM: 189963

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

GTF2B PubMed Links

Additional Information

For this assay, SNP(s) [rs2794318] 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

GTF2B

Gene Name

general transcription factor IIB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001514.5	1044	Missense Mutation	GAA,GAT	E241D	NP_001505.1
XM_011541299.1	1044	Missense Mutation	GAA,GAT	E210D	XP_011539601.1

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