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General information
Gene symbol SMAD2
Gene name SMAD family member 2
Chromosome 18
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_029946.1
Transcript reference NM_005901.5
Associated with diseases LDS
Citation reference(s) -
Curators (3) Giada Tortora, Bart Loeys and Bart Loeys
Total number of public variants reported 9
Unique public DNA variants reported 7
Individuals with public variants 9
Hidden variants 0
Date created July 18, 2017
Date last updated November 07, 2017
Version SMAD2:171107

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Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6768
Entrez Gene 4087
PubMed articles SMAD2
OMIM - Gene 601366

Active transcripts




NCBI ID     

NCBI Protein ID     

00000012 18 transcript variant 1 NM_005901.5 NP_005892.1 9

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