Gc - SNV Details



 Gene Information 
Gene Name Gc
Gene Description group specific component [Source:MGI Symbol;Acc:MGI:95669]
MGI phenotype Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet.
Uniprot Name
CCDS Name
Gene GO
response to nutrient levels; perinuclear region of cytoplasm; vitamin D metabolic process; axon; response to estradiol stimulus; cytosol; vitamin transporter activity; vitamin D binding; actin binding; extracellular space; female pregnancy; lactation
Homolog in other species GC
Omim http://omim.org/entry/139200
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000035540
Chromosome 5
Coordinate 89,422,122     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 71
Allele Frequency
G:R0.55
A:V0.45
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL01963
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved