Alb - SNV Details



 Human Rare Diseases 
Congenital analbuminemia

 Gene Information 
Gene Name Alb
Old Gene Names for Alb Alb-1 , Alb1
Gene Description albumin [Source:MGI Symbol;Acc:MGI:87991]
Uniprot Name
CCDS Name
Gene GO
response to platinum ion; basement membrane; enzyme binding; oxygen binding; drug binding; cytoplasm; hemolysis by symbiont of host erythrocytes; negative regulation of apoptotic process; fatty acid binding; response to organic substance; positive regulation of circadian sleep/wake cycle
non-REM sleep; zinc ion binding; pyridoxal phosphate binding; DNA binding; cellular response to starvation; protein complex; protein binding; response to mercury ion; retina homeostasis; nucleus; extracellular vesicular exosome; transport; toxic substance binding; extracellular region; maintenance of mitochondrion location; extracellular space; chaperone binding; response to nutrient; blood microparticle
Homolog in other species ALB
Omim http://omim.org/entry/103600
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029368
Chromosome 5
Coordinate 90,468,509     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02704
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved