Pcdhb14 - SNV Details



 Gene Information 
Gene Name Pcdhb14
Old Gene Names for Pcdhb14 2210006m07rik
Gene Description protocadherin beta 14 [Source:MGI Symbol;Acc:MGI:2136749]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; homophilic cell adhesion; plasma membrane; calcium ion binding
Homolog in other species PCDHB17
Omim http://omim.org/entry/606340
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044043
Chromosome 18
Coordinate 37,449,770     (Assembly: GRCm38)    
Ref Base T
Codon Change cTg/cGg
Var Base G
Zygosity Heterozygous
Read Depth 100
Allele Frequency
T:R0.53
G:V0.47
Amino Acid Position 643
Amino Acid Change L->R (Leucine -> Arginine)
Sample ID IGL02411
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

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

 Availability Details 
Availability