Genomic variant #0000016437

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74351533T>C
DNA change (hg38) g.73641810T>C
Published as 406A>G, K136E
ISCN -
DB-ID SLC17A5_000007
Variant remarks 1 Finnish SD patient (com-het), 1 Italian SD patient (hom)
Reference PubMed: Aula et al. 2000, PubMed: Biancheri et al. 2005
ClinVar ID -
dbSNP ID rs80338795
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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     
SLC17A5 NM_012434.4 +/+ 3 c.406A>G - r.406a>g p.Lys136Glu