Hs02238768_cn

• Gene Symbol: ITPRIPL1
• Assay Reference Genome Location: Chr.2:96327991 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 150771
• Gene Name: inositol 1,4,5-trisphosphate receptor interacting protein-like 1
• Gene Aliases: KIAA1754L
• Location: Chr.2:96325324-96330507 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITPRIPL1	NM_001008949.2	3	1695	NP_001008949.1
	NM_001163523.1	2	1585	NP_001156995.1
	NM_001163524.1	2	1452	NP_001156996.1
	NM_001324490.1	2	1377	NP_001311419.1
	NM_178495.5	1	1795	NP_848590.3
	XM_017003427.1	2	1628	XP_016858916.1
	AI286121.1	1	352
	BC034503.2	1	1770	AAH34503.2
	BC073153.1	3	1611	AAH73153.1
	R37132.1	1	374

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834305	Chr.2:96183160 - 96353738 on Build GRCh38	Gain	TMEM127 STARD7 LOC105373495 NCAPH SNRNP200 CIAO1 STARD7-AS1 ITPRIPL1
nsv508155	Chr.2:96268957 - 96472565 on Build GRCh38	Deletion	LOC105373495 NCAPH SNRNP200 CIAO1 ITPRIPL1
dgv607e201	Chr.2:95855884 - 97561622 on Build GRCh38	Deletion	ADRA2B ANKRD36C CNNM4 MIR3127 KANSL3 SNRNP200 ANKRD36 TMEM127 FAHD2CP LOC653924 DUSP2 LOC105373496 NCAPH FAM178B ARID5A ANKRD23 ANKRD36B ITPRIPL1 NEURL3 LOC100506076 LOC101927053 CNNM3 ASTL FER1L5 LOC100506123 FAHD2B ANKRD39 LMAN2L GPAT2 SEMA4C STARD7 LOC105373495 CIAO1 STARD7-AS1 LOC107984110
nsv1135873	Chr.2:95981454 - 97579645 on Build GRCh38	Deletion	ADRA2B ANKRD36C CNNM4 MIR3127 KANSL3 SNRNP200 ANKRD36 TMEM127 FAHD2CP LOC653924 DUSP2 LOC105373496 NCAPH FAM178B ARID5A ANKRD23 ANKRD36B ITPRIPL1 NEURL3 LOC100506076 LOC101927053 CNNM3 ASTL FER1L5 LOC100506123 FAHD2B ANKRD39 LMAN2L GPAT2 SEMA4C STARD7 LOC105373495 CIAO1 STARD7-AS1 LOC107984110
esv3425717	Chr.2:95859900 - 97515905 on Build GRCh38	Duplication	ADRA2B ANKRD36C CNNM4 MIR3127 KANSL3 SNRNP200 ANKRD36 TMEM127 FAHD2CP LOC653924 DUSP2 LOC105373496 NCAPH FAM178B ARID5A ANKRD23 ANKRD36B ITPRIPL1 NEURL3 LOC100506076 LOC101927053 CNNM3 ASTL FER1L5 LOC100506123 FAHD2B ANKRD39 LMAN2L GPAT2 SEMA4C STARD7 LOC105373495 CIAO1 STARD7-AS1 LOC107984110

More Information

Additional Information:

For this assay, SNP(s) [rs114832056] 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, Exonic, DGV Variation

Gene Ontology Categories:

Function(s)

protein binding