Product Details

Assay Reference Genome Location: Chr.14:67592630 on build GRCh38
Cytoband: 14q24.1
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs78803922] 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.

Target Gene Details

Entrez Gene ID: 10243
Gene Symbol: GPHN
Gene Name: gephyrin
Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
Location: Chr.14:66507407-67735831 on build GRCh38
Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Entrez Gene ID: 5283
Gene Symbol: PIGH
Gene Name: phosphatidylinositol glycan anchor biosynthesis class H
Gene Aliases: GPI-H
Location: Chr.14:67589306-67600302 on build GRCh38
Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Protein ID
PIGH	NM_004569.3	NP_004560.1
	XM_011536838.2	XP_011535140.1
	XM_017021371.1	XP_016876860.1
	XM_017021372.1	XP_016876861.1
	AK314108.1
	BC004100.2	AAH04100.1
	BC071849.1	AAH71849.1
	BP244435.1
	BT006804.1	AAP35450.1
	L19783.1	AAA03545.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892557	Chr14:67469765 - 67613847 on Build GRCh38	Gain	PLEKHH1 TMEM229B GPHN PIGH
nsv456331	Chr14:67266144 - 67637063 on Build GRCh38	Gain	HMGB1P34 PLEKHH1 MIR5694 TMEM229B PLEK2 GPHN EIF2S1 PIGH LOC105370541 MPP5 ATP6V1D ARG2

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