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          • Home
          • › Search Tool
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          • › Hs03970012_cn
          See other PEMT CNV Assays ›
          Gene Symbol
          PEMT
          Assay Reference Genome
          Location

          Chr.17:17571308 on build GRCh38
          Cytoband
          17p11.2
          Assay ID Hs03970012_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:

          10400

          Gene Name:

          phosphatidylethanolamine N-methyltransferase

          Gene Aliases:

          PEAMT, PEMPT, PEMT2, PNMT

          Location:

          Chr.17:17505561-17591703 on Build GRCh38

          Assay Gene Location:

          Within Intron 5
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PEMT NM_001267551.1 NP_001254480.1
          NM_001267552.1 NP_001254481.1
          NM_007169.2 NP_009100.2
          NM_148172.2 NP_680477.1
          NM_148173.1 NP_680478.1
          XM_006721418.3 XP_006721481.2
          AB029821.1 BAA82407.1
          AF044214.1 AAQ13425.1
          AF113126.1 AAF14867.1
          AF176806.1 AAD53291.1
          AF176807.1 AAD53292.1
          AK302251.1
          BC000557.2 AAH00557.1
          BC050593.1 AAH50593.1
          BM011377.1
          CR457099.1 CAG33380.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv833383 Chr.17:17561321 - 17605824 on Build GRCh38 Loss PEMT
          nsv470579 Chr.17:17521018 - 17590496 on Build GRCh38 Loss PEMT
          nsv1160458 Chr.17:17557360 - 17610214 on Build GRCh38 Duplication PEMT

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          methyltransferase transferase metabolite interconversion enzyme

          Gene Ontology Categories:

          Function(s) Process(es)

          lipid metabolic process
          glycerophospholipid metabolic process
          phosphatidylcholine biosynthetic process
          cell proliferation
          negative regulation of cell proliferation
          phospholipid biosynthetic process
          methylation
          response to vitamin
          response to drug
          response to amino acid
          response to ethanol
          S-adenosylhomocysteine metabolic process
          S-adenosylmethionine metabolic process
          positive regulation of lipoprotein metabolic process
          positive regulation of protein targeting to mitochondrion
          phosphatidyl-N-methylethanolamine N-methyltransferase activity
          phosphatidylethanolamine N-methyltransferase activity
          phosphatidylethanolamine binding
          phosphatidyl-N-dimethylethanolamine N-methyltransferase activity

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