rs139046429

This variant is located in the ICE2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ICE2

This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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