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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLR2H | NM_001278698.1 | 5 | 1182 | NP_001265627.1 |
NM_001278699.1 | 5 | 1127 | NP_001265628.1 | |
NM_001278700.1 | 5 | 968 | NP_001265629.1 | |
NM_001278714.1 | 4 | 1034 | NP_001265643.1 | |
NM_001278715.1 | 4 | 1043 | NP_001265644.1 | |
NM_006232.3 | 5 | 1118 | NP_006223.2 | |
XM_006713666.2 | 6 | 1720 | XP_006713729.1 | |
XM_006713667.2 | 6 | 1469 | XP_006713730.1 | |
XM_006713668.3 | 6 | 1665 | XP_006713731.1 | |
XM_006713670.2 | 6 | 1665 | XP_006713733.1 | |
XM_017006636.1 | 5 | 1572 | XP_016862125.1 | |
XM_017006637.1 | 5 | 1581 | XP_016862126.1 | |
AA431357.1 | ||||
AI244238.1 | 1 | 147 | ||
BC000739.2 | 5 | 668 | AAH00739.1 | |
BI603667.1 | 4 | 670 | ||
BM541682.1 | 5 | 925 | ||
BQ065952.1 | 4 | 601 | ||
U37689.1 | 5 | 773 | AAA91458.1 | |
Z49199.1 | 5 | 686 | CAA89060.1 |
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 | CHRD EIF4G1 THPO PSMD2 LOC105374250 POLR2H SNORD66 FAM131A CLCN2 |
nsv829813 | Chr.3:184264997 - 184427996 on Build GRCh38 | Loss | CHRD EIF4G1 THPO PSMD2 LOC105374250 POLR2H SNORD66 ECE2 FAM131A CLCN2 |
esv2726298 | Chr.3:184367862 - 184368470 on Build GRCh38 | Deletion | POLR2H |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |