Slc24a5 - SNV Details



 Gene Information 
Gene Name Slc24a5
Old Gene Names for Slc24a5 F630045l20rik
Gene Description solute carrier family 24, member 5 [Source:MGI Symbol;Acc:MGI:2677271]
Uniprot Name
CCDS Name
Gene GO
melanosome; trans-Golgi network; response to stimulus; sodium ion transmembrane transport; negative regulation of melanin biosynthetic process; ion transmembrane transport; calcium ion transport; integral component of membrane; calcium
potassium:sodium antiporter activity; transmembrane transport; potassium ion transport; symporter activity
Homolog in other species SLC24A5
Omim http://omim.org/entry/609802
Immgen Expression
MEDIAN
Gnf Expression
HIGH
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035183
Chromosome 2
Coordinate 125,080,830     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 38
Allele Frequency
C:R0.55
A:V0.45
Amino Acid Change T->N (Threonine -> Asparagine)
Sample ID IGL03212
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved