Basic Information Ensembl ID ENSG00000205571        Symbol SMN2 Description survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118] Status KNOWN Biotype protein_coding   Origination Transcript ENST00000380743 (branch 13)ENST00000507458 (branch 13)ENST00000508258 (branch 13)ENST00000514914 (branch 13)ENST00000505346 (branch 13)ENST00000509805 (branch 13)ENST00000511873 (branch 13)ENST00000503678 (branch 13)ENST00000380742 (branch 13)ENST00000506734 (branch 13)ENST00000511812 (branch 13)ENST00000380741 (branch 13) Peptide ENSP00000370117 Location chr5:69345350-69373421    Branch 13 Branch View Paralogues Gene ENSG00000172062 (SMN1) Origination Type DNA level Duplication Paralogous Alignment ? Alignment Details Focal Gene Fraction Paralogues Gene Fraction E-value Bit Score Identity 100% 100% 0.0 629 100.00%   Selection Population Genomics Analysis Transcript Observed # of Nonsynonymous Substitution Observed # of Synonymous Substitution   q   ENST00000511812 1 2 0.35   Phenotype Association GWAS Studies NA   Functional Genomics Transcriptome Profile Proteomic Profile NA   Cross reference Phylostratigraphy ProteinHistorian Literature Description Branch Literature human-specific segmental duplications 13 Dennis et al., 2019 Homo 13 Florio et al., 2018

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