Assay Details
Target Gene Details
Entrez Gene ID: | 56985 |
Gene Name: | ADP-ribose/CDP-alcohol diphosphatase, manganese dependent |
Gene Aliases: |
C17orf48, MDS006, NBLA03831 |
Location: |
Chr.17:10697610-10711558 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ADPRM | NM_020233.4 | 2 | 292 | NP_064618.3 |
XM_005256738.2 | 2 | 292 | XP_005256795.1 | |
AB073393.1 | 2 | 263 | BAE45723.1 | |
AF168715.1 | 1 | 256 | AAF87317.1 | |
AK292629.1 | 2 | 258 | ||
DA305828.1 | 2 | 292 | ||
KF880964.1 | 1 | 217 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1065819 | Chr.17:10622619 - 10784575 on Build GRCh38 | Gain | SCO1 MAGOH2P ADPRM MYHAS MYH3 TMEM220 TMEM220-AS1 |
nsv1063900 | Chr.17:10662646 - 10729182 on Build GRCh38 | Gain | SCO1 MAGOH2P ADPRM MYH3 TMEM220 |
nsv833367 | Chr.17:10683841 - 10826633 on Build GRCh38 | Loss | SCO1 MAGOH2P ADPRM TMEM220 PIRT LINC00675 TMEM220-AS1 |
nsv1058835 | Chr.17:10322963 - 10939602 on Build GRCh38 | Loss | SCO1 MAGOH2P MYH1 MYH3 MYH13 MYH4 LINC00675 ADPRM MYH2 MYHAS MYH8 TMEM220 PIRT TMEM220-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |