Sec62 - SNV Details



 Gene Information 
Gene Name Sec62
Old Gene Names for Sec62 3100002m17rik , Ai844545 , Aw545092 , Tloc1
Gene Description SEC62 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1916526]
Uniprot Name
CCDS Name
Gene GO
membrane; protein transport; endoplasmic reticulum membrane; integral component of membrane; posttranslational protein targeting to membrane; transport; intermediate filament cytoskeleton; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; aggresome; protein transporter activity; molecular_function
Homolog in other species SEC62
Omim http://omim.org/entry/602173
Immgen Expression
HIGH
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000027706
Chromosome 3
Coordinate 30,810,442     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL00323
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved