Product Details

Assay Reference Genome Location: Chr.1:173909589 on build GRCh38
Cytoband: 1q25.1
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 462
Gene Symbol: SERPINC1
Gene Name: serpin family C member 1
Gene Aliases: AT3, AT3D, ATIII, THPH7
Location: Chr.1:173903804-173917378 on build GRCh38
Assay Gene Location: Overlaps Intron 6 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
SERPINC1	NM_000488.3			NP_000479.1
	XM_005245198.3			XP_005245255.1
	AF130100.1			AAG35525.1
	AK312654.1
	BC022309.1			AAH22309.1
	D29832.1			BAA06212.1
	H71210.1
	KP780080.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758978	Chr1:173841504 - 173986805 on Build GRCh38	Loss	GAS5 SNORD80 SERPINC1 DARS2 SNORD47 SNORD75 SNORD77 SNORD76 SNORA103 RC3H1 SNORD44 SNORD74 GAS5-AS1 SNORD81 SNORD79 ZBTB37 SNORD78
nsv831926	Chr1:173733264 - 173925529 on Build GRCh38	Gain+Loss	GAS5 SNORD80 SERPINC1 DARS2 SNORD47 SNORD75 SNORD77 SNORD76 SNORA103 KLHL20 SNORD44 SNORD74 GAS5-AS1 SNORD81 SNORD79 ZBTB37 SNORD78 CENPL

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