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: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ITPA | NM_001267623.1 | 6 | 822 | NP_001254552.1 |
NM_001324236.1 | 7 | 948 | NP_001311165.1 | |
NM_001324237.1 | 8 | 853 | NP_001311166.1 | |
NM_001324238.1 | 7 | 856 | NP_001311167.1 | |
NM_001324240.1 | NP_001311169.1 | |||
NM_033453.3 | 8 | 945 | NP_258412.1 | |
NM_181493.3 | 8 | 894 | NP_852470.1 | |
NR_052000.1 | 7 | 788 | ||
NR_052001.2 | 7 | 866 | ||
NR_052002.1 | 7 | 880 | ||
XM_006723564.3 | 9 | 1275 | XP_006723627.1 | |
XM_006723565.3 | 7 | 1152 | XP_006723628.1 | |
AB062127.1 | 8 | 814 | BAB93459.1 | |
AF026816.2 | 8 | 804 | AAB82608.2 | |
AF063607.1 | 8 | 829 | AAG43165.1 | |
AF219116.1 | 8 | 857 | AAK21848.1 | |
AF334680.1 | 7 | 737 | AAL57168.1 | |
BC010138.2 | 8 | 789 | AAH10138.1 | |
BF969192.1 | ||||
BI115811.1 | 6 | 658 | ||
BQ049090.1 | 7 | 727 | ||
CA425905.1 | 1 | 258 | ||
EF199841.1 | ||||
EF213026.1 |
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 | SLC4A11 ITPA DDRGK1 C20orf194 |
nsv585276 | Chr.20:3030542 - 3366307 on Build GRCh38 | Gain | FASTKD5 UBOX5 SLC4A11 PTPRA UBOX5-AS1 ITPA GNRH2 DDRGK1 LZTS3 OXT MRPS26 AVP C20orf194 |
nsv952979 | Chr.20:3219555 - 3244454 on Build GRCh38 | Deletion | SLC4A11 ITPA |
nsv528355 | Chr.20:3190691 - 3242579 on Build GRCh38 | Loss | SLC4A11 ITPA DDRGK1 |
nsv833898 | Chr.20:3147423 - 3309891 on Build GRCh38 | Gain+Loss | FASTKD5 UBOX5 SLC4A11 UBOX5-AS1 ITPA DDRGK1 C20orf194 LZTS3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |