Cd96 - SNV Details



 Human Rare Diseases 
C syndrome

 Gene Information 
Gene Name Cd96
Old Gene Names for Cd96 1700109i12rik
Gene Description CD96 antigen [Source:MGI Symbol;Acc:MGI:1934368]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cell adhesion; protein binding
Homolog in other species CD96
Omim http://omim.org/entry/606037
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP,MO.6C+II-.LN, B.FO.SP, B.MZ.SP, B1A.PC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022657
Chromosome 16
Coordinate 46,109,127     (Assembly: GRCm38)    
Ref Base T
Codon Change Aca/Gca
Var Base C
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.43
C:V0.57
Amino Acid Position 152
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01538
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 64 Other Mutations

 Predictions 
Polyphen Score 0.25
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000023336:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Immunoglobulin subtype Ig_sub IPR003599 ENSMUSP00000023336 Smart 145
247 Description available Search pathways
Immunoglobulin-like domain Ig-like_dom IPR007110 ENSMUSP00000023336 Prosite_profiles 138
228 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved