Snapc3 - SNV Details



 Gene Information 
Gene Name Snapc3
Old Gene Names for Snapc3 1810020h02rik , 4930558a07rik , 5031401c21rik , Ai414457 , E030018j20rik
Gene Description small nuclear RNA activating complex, polypeptide 3 [Source:MGI Symbol;Acc:MGI:1916338]
Uniprot Name
CCDS Name
Gene GO
regulation of transcription
DNA-templated; DNA binding; nucleus; nucleolus; transcription
DNA-templated
Homolog in other species SNAPC3
Omim http://omim.org/entry/602348
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN(HIGH IN THYMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028483
Chromosome 4
Coordinate 83,436,396     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL00484
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.58
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved