BC018507 - SNV Details



 Gene Information 
Gene Name Bc018507
Old Gene Names for BC018507 C77245
Gene Description cDNA sequence BC018507 [Source:MGI Symbol;Acc:MGI:2385865]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Immgen Expression
HIGH
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034525
Chromosome 13
Coordinate 70,596,203     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.49
G:V0.51
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02929
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved