rs138651506

This variant is located in the TAF1B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TAF1B

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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