Rpia - SNV Details



 Gene Information 
Gene Name Rpia
Gene Description ribose 5-phosphate isomerase A [Source:MGI Symbol;Acc:MGI:103254]
Uniprot Name
CCDS Name
Gene GO
non-oxidative branch
cytosol
isomerase activity
microsome
monosaccharide binding
pentose-phosphate shunt
ribose phosphate metabolic process
ribose-5-phosphate isomerase activity
soluble fraction
sugar binding
Homolog in other species RPIA
Omim http://omim.org/entry/180430
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000053604
Chromosome 6
Coordinate 70,775,102     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 129
Allele Frequency
C:0.53
T:0.46
Amino Acid Change Disrupted splicing
Sample ID IGL00916
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved