Col12a1 - SNV Details



 Gene Information 
Gene Name Col12a1
Old Gene Names for Col12a1 Aw743884
Gene Description collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; cell adhesion; collagen type XII; protein binding; extracellular space
Homolog in other species COL12A1
Omim http://omim.org/entry/120320
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032332
Chromosome 9
Coordinate 79,681,537     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 55
Allele Frequency
T:R0.49
C:V0.51
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00402
Median Base Quality 37
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.7
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved