Hs03404793_cn

• Gene Symbol: TMEM127
• Assay Reference Genome Location: Chr.2:96249942 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 55654
• Gene Name: transmembrane protein 127
• Gene Aliases: -
• Location: Chr.2:96248514-96266014 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM127	XM_017004450.1	3	4440	XP_016859939.1
	XM_017004451.1	3	4485	XP_016859940.1
	XM_017004452.1	3	4440	XP_016859941.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs78775537] 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:

Process(es)

endosome organization
negative regulation of cell proliferation
negative regulation of TOR signaling

Function(s)

molecular_function
Rab GTPase binding