Variant #0000002437 (NC_000012.12:g.21178464_21178469del, SLCO1B1(NM_006446.4):c.482-112_482-107del)

Individual ID 00000531
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21178464_21178469del
Published as IVS5–107_112 delCTTGTA
Reference Fei Liang Wong et al.(2012)
DB-ID SLCO1B1_000005 See all 3 reported entries
dbSNP ID rs4149096
Frequency 37/73
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
SLCO1B1 NM_006446.4 +/. - c.482-112_482-107del - r.(=) p.(=) -



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000579 DNA MCA;TaqMan SLCO1B1 5 Nur Aisyah Athirah