Variant #0000002428 (NC_000012.12:g.21176804A>G, SLCO1B1(NM_006446.4):c.388A>G)

Individual ID 00000529
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21176804A>G
Published as -
Reference Fei-Liang Wong et al.(2009)
DB-ID SLCO1B1_000001 See all 5 reported entries
dbSNP ID rs2306283
Frequency 162/175
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 +/. 4 c.388A>G - r.(?) p.(Asn130Asp) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000577 DNA MCA;PCR;SEQ SLCO1B1 4 Nur Aisyah Athirah