Hs04813402_cn

• Gene Symbol: JAKMIP1
• Assay Reference Genome Location: Chr.4:6027124 on build GRCh38
• Cytoband: 4p16.1

Target Gene Details

• Entrez Gene ID: 152789
• Gene Name: janus kinase and microtubule interacting protein 1
• Gene Aliases: Gababrbp, JAMIP1, MARLIN1
• Location: Chr.4:6024925-6200591 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JAKMIP1	NM_001099433.1			NP_001092903.1
	XM_017007788.1			XP_016863277.1
	XM_017007789.1			XP_016863278.1
	XM_017007790.1			XP_016863279.1
	XM_017007791.1			XP_016863280.1
	XM_017007792.1			XP_016863281.1
	XM_017007793.1			XP_016863282.1
	XM_017007794.1			XP_016863283.1
	XM_017007795.1			XP_016863284.1
	XM_017007797.1			XP_016863286.1
	XM_017007798.1			XP_016863287.1
	XM_017007799.1			XP_016863288.1
	AM412307.1
	AM412308.1
	AM412309.1
	AM412310.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv4209	Chr.4:6018928 - 6052309 on Build GRCh38	Insertion	JAKMIP1
nsv593493	Chr.4:6003650 - 6032312 on Build GRCh38	Loss	JAKMIP1 C4orf50
nsv829845	Chr.4:5870068 - 6088797 on Build GRCh38	Loss	JAKMIP1 C4orf50 CRMP1 MIR378D1

More Information

Additional Information:

For this assay, SNP(s) [rs113299219] 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

Gene Ontology Categories:

Process(es)

protein transport
cognition

Function(s)

RNA binding
protein binding
microtubule binding
kinesin binding
kinase binding
GABA receptor binding