Genomic variant #0000016485

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.149360429A>G
DNA change (hg38) g.149980866A>G
Published as A1300G: N425D; Asn425Asp
ISCN -
DB-ID SLC26A2_000020 See all 2 reported entries
Variant remarks 1 Portugese DTD patient (com-het); Functional studies show dicreased sulfate transport activity
Reference PubMed: Superti-Furga_et al. 1996c, PubMed: Barbosa et al. 2011
ClinVar ID -
dbSNP ID rs104893920
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/+ 3 c.1273A>G - r.(1273a>g) p.(Asn425Asp)