Gdap2 - SNV Details



 Gene Information 
Gene Name Gdap2
Old Gene Names for Gdap2 C77050 , D3ertd801e
Gene Description ganglioside-induced differentiation-associated-protein 2 [Source:MGI Symbol;Acc:MGI:1338001]
Uniprot Name
CCDS Name
Gene GO
response to retinoic acid; cellular_component; molecular_function
Homolog in other species GDAP2
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
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 ENSMUSG00000027865
Chromosome 3
Coordinate 100,170,927     (Assembly: GRCm38)    
Ref Base C
Codon Change aCa/aTa
Var Base T
Zygosity Heterozygous
Read Depth 43
Allele Frequency
C:R0.56
T:V0.44
Amino Acid Position 69
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01508
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.77
Polyphen Prediction Possibly damaging
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved