rs145025351

This variant is located in the SLC39A5 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SLC39A5

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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