Assay Details
Target Gene Details
Entrez Gene ID: | 5437 |
Gene Name: | RNA polymerase II subunit H |
Gene Aliases: |
RPABC3, RPB17, RPB8 |
Location: |
Chr.3:184361710-184368595 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLR2H | NM_001278700.1 | 1 | 268 | NP_001265629.1 |
XM_006713666.2 | 1 | 263 | XP_006713729.1 | |
XM_006713667.2 | 1 | 255 | XP_006713730.1 | |
XM_006713668.3 | 1 | 272 | XP_006713731.1 | |
XM_006713670.2 | 1 | 263 | XP_006713733.1 | |
XM_017006636.1 | 1 | 263 | XP_016862125.1 | |
XM_017006637.1 | 1 | 263 | XP_016862126.1 | |
BM541682.1 | 1 | 225 | ||
HY178178.1 | 1 | 268 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422400 | Chr.3:184299495 - 184425713 on Build GRCh38 | Duplication | CLCN2 THPO EIF4G1 LOC105374250 PSMD2 POLR2H FAM131A SNORD66 CHRD |
nsv829813 | Chr.3:184264997 - 184427996 on Build GRCh38 | Loss | CLCN2 THPO EIF4G1 LOC105374250 PSMD2 POLR2H FAM131A SNORD66 CHRD ECE2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |