Abcc9 - SNV Details



 Human Rare Diseases 
Hypertrichosis with acromegaloid facial appearence
Familial isolated dilated cardiomyopathy
Familial atrial fibrillation
Acromegaloid facial appearance syndrome
Cantu syndrome

 Gene Information 
Gene Name Abcc9
Old Gene Names for Abcc9 Sur2 , Ai414027 , Ai449286
Gene Description ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:MGI Symbol;Acc:MGI:1352630]
MGI phenotype Mice homozygous for disruptions in this gene display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death starting at 6 weeks of age due to episodic coronary artery vasospasm.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; integral to membrane; sulfonylurea receptor activity; sarcomere; nucleoside-triphosphatase activity; ion channel binding; transport; nucleotide binding; defense response to virus; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; plasma membrane; voltage-gated potassium channel complex; potassium ion transport
Homolog in other species ABCC9
Omim http://omim.org/entry/601439
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030249
Chromosome 6
Coordinate 142,626,037     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Gtt
Var Base C
Zygosity Heterozygous
Read Depth 12
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 1109
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01946
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.45
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved