Smarcd2 - SNV Details



 Gene Information 
Gene Name Smarcd2
Old Gene Names for Smarcd2 Aw322457
Gene Description SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Source:MGI Symbol;Acc:MGI:1933621]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; SWI/SNF complex; protein binding; regulation of transcription
DNA-dependent; nucleosome disassembly; chromatin remodeling; molecular_function
Homolog in other species SMARCD2
Omim http://omim.org/entry/601736
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000078619
Chromosome 11
Coordinate 106,266,677     (Assembly: GRCm38)    
Ref Base G
Codon Change Cgg/Tgg
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
G:R0.49
A:V0.49
Amino Acid Position 148
Amino Acid Change R->W (Arginine -> Tryptophan)
Sample ID IGL01880
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved