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Gene Symbol
ITPA
Assay Reference Genome
Location

Chr.20:3218522 on build GRCh38
Cytoband
20p13
Assay ID Hs02544775_cn
Size
Availability Made To Order
Catalog # 4400291
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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 6 - Exon 7
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
AV694278.1
BC010138.2 AAH10138.1
BE275997.1
BF969192.1
BI115811.1
BM703982.1
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 C20orf194 DDRGK1 ITPA
nsv585276 Chr.20:3030542 - 3366307 on Build GRCh38 Gain SLC4A11 DDRGK1 ITPA UBOX5 LZTS3 AVP GNRH2 OXT C20orf194 PTPRA MRPS26 FASTKD5 UBOX5-AS1
nsv528355 Chr.20:3190691 - 3242579 on Build GRCh38 Loss SLC4A11 DDRGK1 ITPA
nsv833898 Chr.20:3147423 - 3309891 on Build GRCh38 Gain+Loss SLC4A11 C20orf194 DDRGK1 ITPA UBOX5 LZTS3 FASTKD5 UBOX5-AS1

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