SMN2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSMN2
Namesurvival of motor neuron 2, centromeric
Typeprotein-coding
Sourcemygene

Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal m

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This is an externally resolved entity

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