Hs02732739_cn

• Gene Symbol: HSDL1
• Assay Reference Genome Location: Chr.16:84124298 on build GRCh38
• Cytoband: 16q24.1

Target Gene Details

• Entrez Gene ID: 83693
• Gene Name: hydroxysteroid dehydrogenase like 1
• Gene Aliases: SDR12C3
• Location: Chr.16:84122139-84145195 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSDL1	NM_001146051.1	7	1344	NP_001139523.1
	NM_031463.4	6	1509	NP_113651.4
	XM_005256189.2	6	1477	XP_005256246.1
	AK025626.1	2	620
	AK074878.1	6	1473	BAC11262.1
	AK098199.1	1	907
	AK299798.1	7	1318
	AY028377.1	5	1373	AAK16927.1
	BC018084.1	6	1502	AAH18084.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833309	Chr.16:84076867 - 84248591 on Build GRCh38	Loss	KCNG4 LOC729887 DNAAF1 TAF1C MBTPS1 ADAD2 HSDL1
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	KCNG4 LOC729887 SLC38A8 DNAAF1 MLYCD TAF1C MBTPS1 ADAD2 OSGIN1 HSDL1 LOC105371371 NECAB2
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	KCNG4 LOC729887 SLC38A8 DNAAF1 TAF1C LOC105376777 WFDC1 MBTPS1 ADAD2 HSDL1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	KCNG4 LOC729887 SLC38A8 DNAAF1 TAF1C MBTPS1 ADAD2 HSDL1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase