Genomic variant #0000278776

Individual ID 00000003
Chromosome 2
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43838797T>G
Reference dbSNP
DB-ID ABCG5_000008
Frequency 0.004717
Allele Count 1
Allele Number 212
Depth 1316
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     
ABCG5 NM_022436.2 ./.
ABCG8 NM_022437.2 ./.
ABCG5 XM_005264480.2 ./.
ABCG8 XM_005264483.2 ./.
ABCG5 XM_006712073.2 ./.
ABCG5 XM_006712074.2 ./.
ABCG5 XM_011533024.1 ./.
ABCG5 XM_011533025.1 ./.
ABCG5 XM_011533026.1 ./.
ABCG5 XM_011533027.1 ./.
ABCG8 XM_011533029.1 ./.
ABCG8 XM_011533030.1 ./.
ABCG8 XM_011533031.1 ./.



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000003 DNA SEQ-NG-I - 624137 Admin