Assay Details
Target Gene Details
Entrez Gene ID: | 140699 |
Gene Name: | maestro heat like repeat family member 8 |
Gene Aliases: |
C20orf131, C20orf132, dJ621N11.3, dJ621N11.4 |
Location: |
Chr.20:37101226-37179588 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MROH8 | NM_152503.5 | NP_689716.4 | ||
NM_213631.2 | NP_998796.1 | |||
NM_213632.2 | NP_998797.2 | |||
AK093432.1 | BAC04162.1 | |||
BC030006.1 | ||||
BC057767.1 | AAH57767.1 |
Target Gene Details
Entrez Gene ID: | 6185 |
Gene Name: | ribophorin II |
Gene Aliases: |
RIBIIR, RPN-II, RPNII, SWP1 |
Location: |
Chr.20:37179046-37241623 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPN2 | NM_001135771.2 | 1 | 182 | NP_001129243.1 |
NM_001324299.1 | 1 | 182 | NP_001311228.1 | |
NM_001324301.1 | 1 | 182 | NP_001311230.1 | |
NM_001324302.1 | 1 | 182 | NP_001311231.1 | |
NM_001324303.1 | 1 | 182 | NP_001311232.1 | |
NM_001324304.1 | 1 | 182 | NP_001311233.1 | |
NM_001324305.1 | 1 | 182 | NP_001311234.1 | |
NM_001324306.1 | 1 | 182 | NP_001311235.1 | |
NM_002951.4 | 1 | 182 | NP_002942.2 | |
XM_006723851.2 | XP_006723914.1 | |||
XM_006723852.2 | XP_006723915.1 | |||
AK096243.1 | 1 | 67 | ||
BC020222.1 | 1 | 53 | AAH20222.1 | |
BG718075.1 | 1 | 187 | ||
DB449190.1 | 1 | 177 | ||
Y00282.1 | 1 | 161 | CAA68393.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3645750 | Chr.20:37049310 - 37196647 on Build GRCh38 | Gain | RPN2 RBL1 MROH8 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |