Rptn - SNV Details



 Gene Information 
Gene Name Rptn
Gene Description repetin [Source:MGI Symbol;Acc:MGI:1099055]
Uniprot Name
CCDS Name
Gene GO
cornified envelope; calcium ion binding
Homolog in other species RPTN
Omim http://omim.org/entry/613259
Immgen Expression
LOW
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041984
Chromosome 3
Coordinate 93,396,811     (Assembly: GRCm38)    
Ref Base A
Codon Change Aat/Gat
Var Base G
Zygosity Heterozygous
Read Depth 122
Allele Frequency
A:R0.49
G:V0.51
Amino Acid Position 484
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL01678
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Sift Score 0.94
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved