Variant #0000005589 (NC_000015.9:g.34537949C>T, SLC12A6(NM_005135.2):c.1616G>A)

Individual ID 00005601
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.34537949C>T
Reference Rudnik-Schöneborn S et al. (2009)
DB-ID SLC12A6_000001
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC12A6 NM_005135.2 ./. 13 c.1616G>A r.(?) p.(Gly539Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005613 ? ? SLC12A6 1 XY Liu