View transcript variants in HERC2

Information The variants shown are described using the NM_004667.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic)     

DB-ID     

Gene or Locus mapped in study     

dbSNP ID     

IGV     

1000 Genomes     

Population     

Pubmed Reference     

Variant remarks     

Risk allele     

Owner     
./. - c.322+2768T>G r.(=) p.(=) g.28535266A>C HERC2_000003 HERC2 rs1635168 IGV 1000G European Jin et al.(2016) GWAS A Ankita
./. - c.13272+874T>C r.(=) p.(=) g.28365618A>G HERC2_000001 OCA2-HERC2 rs12913832 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
./. - c.*50G>A r.(=) p.(=) g.28356859C>T HERC2_000002 OCA2-HERC2 rs1129038 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
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