rs762853375

This variant is located in the SETMAR gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SETMAR

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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