Hs02746104_cn

• Gene Symbol: HSDL1
• Assay Reference Genome Location: Chr.16:84131280 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSDL1	NM_001146051.1	3	226	NP_001139523.1
	NM_031463.4	3	226	NP_113651.4
	XM_005256189.2	3	194	XP_005256246.1
	AF237684.1	2	90	AAK15047.1
	AK074878.1	3	190	BAC11262.1
	AK299798.1	3	200
	AY028377.1	2	90	AAK16927.1
	BC018084.1	3	219	AAH18084.2
	BC104218.1	2	107	AAI04219.1
	BC104219.1	2	107	AAI04220.1
	BC106917.2	2	107
	DC306668.1	3	226

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 HSDL1 ADAD2 TAF1C MBTPS1 DNAAF1 LOC729887
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	KCNG4 HSDL1 NECAB2 ADAD2 LOC105371371 OSGIN1 TAF1C MBTPS1 DNAAF1 MLYCD LOC729887 SLC38A8
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	WFDC1 LOC105376777 KCNG4 HSDL1 ADAD2 TAF1C MBTPS1 DNAAF1 LOC729887 SLC38A8
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	KCNG4 HSDL1 ADAD2 TAF1C MBTPS1 DNAAF1 LOC729887 SLC38A8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase