Pcdhb20 - SNV Details



 Gene Information 
Gene Name Pcdhb20
Gene Description protocadherin beta 20 [Source:MGI Symbol;Acc:MGI:2136758]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; homophilic cell adhesion; plasma membrane; calcium ion binding; molecular_function
Homolog in other species PCDHB14
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000046191
Chromosome 18
Coordinate 37,504,807     (Assembly: GRCm38)    
Ref Base C
Codon Change Cac/Tac
Var Base T
Zygosity Heterozygous
Read Depth 105
Allele Frequency
C:R0.49
T:V0.51
Amino Acid Position 129
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL01621
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved