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          • Home
          • › Search Tool
          • › Search Results
          • › Hs04107451_cn
          See other NSDHL CNV Assays ›
          Gene Symbol
          NSDHL
          Assay Reference Genome
          Location

          Chr.X:152843827 on build GRCh38
          Cytoband
          Assay ID Hs04107451_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          50814

          Gene Name:

          NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

          Gene Aliases:

          H105E3, SDR31E1, XAP104

          Location:

          Chr.X:152831063-152869729 on Build GRCh38

          Assay Gene Location:

          Within Intron 4
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          NSDHL NM_001129765.2 NP_001123237.1
          NM_001441099.1
          NM_015922.3 NP_057006.1
          XM_011531178.3 XP_011529480.1
          XM_017029564.2 XP_016885053.1
          AK026549.1
          BC000245.1 AAH00245.1
          BC007816.2 AAH07816.1
          GQ900951.1 ADO22468.1
          U47105.2 AAC50558.2

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv4044212 Chr.X:152722308 - 152930944 on Build GRCh38 Duplication CSAG1 ZNF185 MAGEA2 CSAG3 NSDHL CSAG4 MAGEA6 MAGEA12 CETN2
          nsv6112507 Chr.X:152810767 - 152936044 on Build GRCh38 Duplication ZNF185 NSDHL CETN2
          nsv3117439 Chr.X:152810963 - 152935816 on Build GRCh38 Duplication ZNF185 NSDHL CETN2
          nsv5426655 Chr.X:152816883 - 152848271 on Build GRCh38 Duplication NSDHL CETN2
          esv2758901 Chr.X:152745001 - 152849208 on Build GRCh38 Gain MAGEA2 CSAG3 NSDHL MAGEA6 CETN2
          nsv7158 Chr.X:152841419 - 152868689 on Build GRCh38 Insertion NSDHL
          esv25868 Chr.X:152816977 - 152847832 on Build GRCh38 Gain NSDHL CETN2
          nsv6105096 Chr.X:152719451 - 153060710 on Build GRCh38 Duplication CSAG1 ZNF185 PNMA5 MAGEA2 PNMA3 CSAG3 NSDHL CSAG4 MAGEA6 MAGEA12 CETN2
          nsv470373 Chr.X:152796870 - 152935948 on Build GRCh38 Gain ZNF185 NSDHL CETN2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          hair follicle development
          lipid metabolic process
          steroid biosynthetic process
          cholesterol biosynthetic process
          smoothened signaling pathway
          steroid metabolic process
          cholesterol metabolic process
          sterol biosynthetic process
          labyrinthine layer blood vessel development
          C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity
          3-beta-hydroxy-delta5-steroid dehydrogenase activity
          protein binding
          oxidoreductase activity
          oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
          3-beta-hydroxysteroid dehydrogenase (NAD+)/C4-decarboxylase activity

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