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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ADPRM | NM_020233.4 | 4 | 1201 | NP_064618.3 |
XM_005256738.2 | XP_005256795.1 | |||
AB073393.1 | BAE45723.1 | |||
DA280275.1 | 1 | 241 |
Target Gene Details
Entrez Gene ID: | 388335 |
Gene Name: | transmembrane protein 220 |
Gene Aliases: |
- |
Location: |
Chr.17:10711084-10730329 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMEM220 | XM_017024616.1 | 7 | 1661 | XP_016880105.1 |
XM_017024617.1 | 6 | 2053 | XP_016880106.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2675560 | Chr.17:10710661 - 10748164 on Build GRCh38 | Deletion | TMEM220 TMEM220-AS1 ADPRM MAGOH2P |
nsv1065819 | Chr.17:10622619 - 10784575 on Build GRCh38 | Gain | SCO1 TMEM220 MYH3 TMEM220-AS1 ADPRM MAGOH2P MYHAS |
esv3639941 | Chr.17:10710674 - 10748133 on Build GRCh38 | Loss | TMEM220 TMEM220-AS1 ADPRM MAGOH2P |
esv3639942 | Chr.17:10710767 - 10713237 on Build GRCh38 | Loss | TMEM220 ADPRM |
nsv1063900 | Chr.17:10662646 - 10729182 on Build GRCh38 | Gain | SCO1 TMEM220 MYH3 ADPRM MAGOH2P |
nsv833367 | Chr.17:10683841 - 10826633 on Build GRCh38 | Loss | SCO1 TMEM220 PIRT LINC00675 TMEM220-AS1 ADPRM MAGOH2P |
nsv1058835 | Chr.17:10322963 - 10939602 on Build GRCh38 | Loss | TMEM220 MYH3 PIRT MYH1 MYHAS SCO1 MYH2 MYH8 MYH13 LINC00675 TMEM220-AS1 ADPRM MYH4 MAGOH2P |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |