The SKI gene homepage

General information
Gene symbol SKI
Gene name v-ski sarcoma viral oncogene homolog (avian)
Chromosome 1
Chromosomal band p36.33
Imprinted Unknown
Genomic reference NG_013084.1
Transcript reference NM_003036.3
Exon/intron information NM_003036.3 exon/intron table
Associated with diseases ID, SGS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Dorien Schepers
Total number of public variants reported 176
Unique public DNA variants reported 117
Individuals with public variants 52
Hidden variants 9
Date created May 03, 2013
Date last updated February 26, 2024
Version SKI:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003036.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
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
Homepage URL http://www.LOVD.nl/SKI
HGNC 10896
Entrez Gene 6497
PubMed articles SKI
OMIM - Gene 164780
OMIM - Diseases SGS (Shprintzen-Goldberg craniosynostosis syndrome (SGS))
HGMD SKI
GeneCards SKI
GeneTests SKI
Orphanet SKI


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018964 1 v-ski sarcoma viral oncogene homolog (avian) NM_003036.3 NP_003027.1 176


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