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          • Home
          • › Search Tool
          • › Search Results
          • › Hs04627289_cn
          See other SLC19A3 CNV Assays ›
          Gene Symbol
          SLC19A3
          Assay Reference Genome
          Location

          Chr.2:227695254 on build GRCh38
          Cytoband
          Assay ID Hs04627289_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:

          80704

          Gene Name:

          solute carrier family 19 member 3

          Gene Aliases:

          BBGD, THMD2, THTR2, hTHTR2, thTr-2

          Location:

          Chr.2:227683763-227718028 on Build GRCh38

          Assay Gene Location:

          Within Intron 7
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          SLC19A3 NM_001371411.1 NP_001358340.1
          NM_001371412.1 NP_001358341.1
          NM_001371413.1 NP_001358342.1
          NM_001371414.1 NP_001358343.1
          NM_025243.4 NP_079519.1
          XM_047445927.1 XP_047301883.1
          AF271633.1 AAG53879.1
          AF283317.1 AAK69539.1
          AK301490.1 BAH13497.1
          AK312464.1 BAG35371.1
          BC032014.1 AAH32014.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1000263 Chr.2:227632997 - 227790216 on Build GRCh38 Gain SCYGR8 SCYGR6 SCYGR5 SLC19A4P SLC19A3 SCYGR7
          nsv834561 Chr.2:227550392 - 227703283 on Build GRCh38 Gain SCYGR5 LOC729968 SCYGR2 SLC19A4P SCYGR10 SCYGR4 SLC19A3 AGFG1 SCYGR3
          nsv6344676 Chr.2:227666851 - 227728391 on Build GRCh38 Duplication SCYGR6 SCYGR5 SLC19A3 SCYGR7
          nsv4518696 Chr.2:227686283 - 227728284 on Build GRCh38 Duplication SCYGR6 SLC19A3
          nsv4089735 Chr.2:227684284 - 227699384 on Build GRCh38 Deletion SLC19A3
          nsv6339222 Chr.2:227666845 - 227728380 on Build GRCh38 Deletion SCYGR6 SCYGR5 SLC19A3 SCYGR7
          nsv5888363 Chr.2:227666825 - 227728355 on Build GRCh38 Deletion SCYGR6 SCYGR5 SLC19A3 SCYGR7
          esv2721563 Chr.2:227648287 - 227699345 on Build GRCh38 Deletion SCYGR5 SLC19A3
          nsv6339848 Chr.2:227630968 - 227791300 on Build GRCh38 Duplication SCYGR8 SCYGR6 SCYGR5 SLC19A4P SLC19A3 SCYGR7

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          thiamine diphosphate biosynthetic process
          thiamine transport
          pyridoxine transport
          thiamine-containing compound metabolic process
          vitamin transport
          transmembrane transport
          thiamine transmembrane transport
          protein binding
          thiamine transmembrane transporter activity
          vitamin transmembrane transporter activity

          Back To Top

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