Product Details

Assay Reference Genome Location: Chr.6:43611256 on build GRCh38
Cytoband: 6p21.1
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 5429
Gene Symbol: POLH
Gene Name: DNA polymerase eta
Gene Aliases: RAD30, RAD30A, XP-V, XPV
Location: Chr.6:43576141-43620523 on build GRCh38
Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
POLH	NM_001291969.1			NP_001278898.1
	NM_001291970.1			NP_001278899.1
	NM_006502.2			NP_006493.1
	XM_005249186.3			XP_005249243.1
	XM_011514698.2			XP_011513000.1
	AB024313.1			BAA81666.1
	AF158185.1			AAD43810.1
	AJ420484.1
	AK023893.1
	AK122807.1
	AK294430.1
	AK307660.1
	AK316151.1
	BC015742.1			AAH15742.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5281	Chr6:43611090 - 43655905 on Build GRCh38	Deletion	MAD2L1BP GTPBP2 POLH RSPH9

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