Col20a1 - SNV Details



 Gene Information 
Gene Name Col20a1
Old Gene Names for Col20a1 1700051i12rik
Gene Description collagen, type XX, alpha 1 [Source:MGI Symbol;Acc:MGI:1920618]
Uniprot Name
CCDS Name
Gene GO
protein binding; collagen; cellular_component; biological_process; extracellular space; molecular_function
Homolog in other species COL20A1
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000016356
Chromosome 2
Coordinate 181,009,368     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.36
A:V0.64
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL01936
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability