Assay Details
Target Gene Details
Entrez Gene ID: | 3704 |
Gene Name: | inosine triphosphatase |
Gene Aliases: |
C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3 |
Location: |
Chr.20:3208868-3227449 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 7 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ITPA | NM_001267623.1 | NP_001254552.1 | ||
NM_001324236.1 | NP_001311165.1 | |||
NM_001324237.1 | NP_001311166.1 | |||
NM_001324238.1 | NP_001311167.1 | |||
NM_001324240.1 | NP_001311169.1 | |||
NM_033453.3 | NP_258412.1 | |||
NM_181493.3 | NP_852470.1 | |||
NR_052000.1 | ||||
NR_052001.2 | ||||
NR_052002.1 | ||||
XM_006723564.3 | XP_006723627.1 | |||
XM_006723565.3 | XP_006723628.1 | |||
XM_011529234.2 | XP_011527536.1 | |||
AB062127.1 | BAB93459.1 | |||
AF026816.2 | AAB82608.2 | |||
AF063607.1 | AAG43165.1 | |||
AF219116.1 | AAK21848.1 | |||
AF334680.1 | AAL57168.1 | |||
AK309165.1 | 5 | 781 | ||
AV694278.1 | ||||
BC010138.2 | AAH10138.1 | |||
BE275997.1 | ||||
BF969192.1 | ||||
BI115811.1 | ||||
BQ049090.1 | ||||
CA425905.1 | ||||
EF199841.1 | ||||
EF213026.1 | ||||
KU178148.1 | ||||
KU178149.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1067207 | Chr.20:3191285 - 3404426 on Build GRCh38 | Gain | C20orf194 DDRGK1 ITPA SLC4A11 |
nsv585276 | Chr.20:3030542 - 3366307 on Build GRCh38 | Gain | UBOX5 DDRGK1 ITPA MRPS26 C20orf194 GNRH2 PTPRA OXT FASTKD5 LZTS3 UBOX5-AS1 SLC4A11 AVP |
nsv528355 | Chr.20:3190691 - 3242579 on Build GRCh38 | Loss | DDRGK1 ITPA SLC4A11 |
nsv833898 | Chr.20:3147423 - 3309891 on Build GRCh38 | Gain+Loss | UBOX5 C20orf194 FASTKD5 LZTS3 DDRGK1 ITPA UBOX5-AS1 SLC4A11 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |