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 Intron 10 |
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 | |||
AB062127.1 | BAB93459.1 | |||
AF026816.2 | AAB82608.2 | |||
AF063607.1 | AAG43165.1 | |||
AF219116.1 | AAK21848.1 | |||
AF334680.1 | AAL57168.1 | |||
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 | SLC4A11 DDRGK1 C20orf194 ITPA |
nsv585276 | Chr.20:3030542 - 3366307 on Build GRCh38 | Gain | UBOX5 SLC4A11 DDRGK1 LZTS3 OXT ITPA PTPRA UBOX5-AS1 MRPS26 C20orf194 FASTKD5 AVP GNRH2 |
nsv952979 | Chr.20:3219555 - 3244454 on Build GRCh38 | Deletion | SLC4A11 ITPA |
nsv528355 | Chr.20:3190691 - 3242579 on Build GRCh38 | Loss | SLC4A11 DDRGK1 ITPA |
nsv833898 | Chr.20:3147423 - 3309891 on Build GRCh38 | Gain+Loss | UBOX5-AS1 UBOX5 SLC4A11 DDRGK1 LZTS3 C20orf194 FASTKD5 ITPA |
More Information
Additional Information:
For this assay, SNP(s) [rs76221187] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |