Col27a1 - SNV Details



 Gene Information 
Gene Name Col27a1
Old Gene Names for Col27a1 5730512j02rik , Ai449266
Gene Description collagen, type XXVII, alpha 1 [Source:MGI Symbol;Acc:MGI:2672118]
Uniprot Name
CCDS Name
Gene GO
fibrillar collagen; collagen; biological_process; extracellular matrix structural constituent; molecular_function
Homolog in other species COL27A1
Omim http://omim.org/entry/608461
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 RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000045672
Chromosome 4
Coordinate 63,263,779     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 71
Allele Frequency
A:R0.65
G:V0.35
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL01738
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved