Smcr8 - SNV Details



 Gene Information 
Gene Name Smcr8
Old Gene Names for Smcr8 2310076g09rik , D030073l15rik , Ai642055
Gene Description Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) [Source:MGI Symbol;Acc:MGI:2444720]
Uniprot Name
CCDS Name
Gene GO
nucleus; biological_process; molecular_function
Homolog in other species SMCR8
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000049323
Chromosome 11
Coordinate 60,778,027     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
T:R0.62
A:V0.38
Amino Acid Change Disrupted splicing
Splice Position 1
Sample ID IGL03286
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 

 Availability Details 
Availability