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Gene Information
Gene ID:6606
Symbol:SMN1
Full Name:survival of motor neuron 1, telomeric
Alias:BCD541|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMNT|T-BCD541
Organism:Homo sapiens (Human)
Chromosome:5
Genetic Location:5q13
Physical Location:70256523-70284592 on NC_000005.8
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D5S647  66282906
Region:66282906-76193808
Phenotype:Alcoholism phenotype along with age, gender, and P300 or constraint
Name:15211641
Method:Linkage
Publication:Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000344.2NP_000335.1NC_000005.8 range: 70256523..70284592
NM_022874.1NP_075012.1NC_000005.8 range: 70256523..70284592
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0003676nucleic acid bindingMolecular FunctionIEA
Other Database Cross Links
NCBI Entrez Gene:6606
HGNC:11117
Ensembl:ENSG00000172062
MIM:600354
HPRD:02646
HuGE Navigator:6606
dbSNP:SMN1
GeneCard:SMN1
AceView:SMN1