Nyx - SNV Details



 Human Rare Diseases 
Congenital stationary night blindness

 Gene Information 
Gene Name Nyx
Gene Description nyctalopin [Source:MGI Symbol;Acc:MGI:2448607]
Uniprot Name
CCDS Name
Gene GO
response to stimulus; proteinaceous extracellular matrix; intracellular; protein binding; visual perception
Homolog in other species NYX
Omim http://omim.org/entry/300278
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051228
Chromosome X
Coordinate 13,487,025     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 10
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL00476
Median Base Quality 34
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.35
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved