Variant #0000129894 (NC_000007.13:g.107301201T>C, NM_000441.1:c.-103T>C (SLC26A4))

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.107301201T>C
DNA change (hg38) g.107660756T>C
Published as -
ISCN -
DB-ID SLC26A4_000197 See all 11 reported entries
Variant remarks in vitro promoter-reporter assay shows significantly decreased transcription of variant SLC26A4 construct
Reference PubMed: Yang 2007, Journal: Yang 2007
ClinVar ID -
dbSNP ID rs60284988
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-09 16:33:41 +02:00 (CEST)
Date last edited 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A4 NM_000441.1 +/+ 1 c.-103T>C r.(0?) p.(0?)


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