Col22a1 - SNV Details



 Gene Information 
Gene Name Col22a1
Old Gene Names for Col22a1 C80743 , 2310067l16rik
Gene Description collagen, type XXII, alpha 1 [Source:MGI Symbol;Acc:MGI:1916950]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Homolog in other species COL22A1
Omim http://omim.org/entry/610026
Gnf Expression
MEDIAN(HIGH IN TESTIS)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000079022
Chromosome 15
Coordinate 71,860,958     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 70
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL00162
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved