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See other F12 CNV Assays ›
Gene Symbol
F12
Assay Reference Genome
Location

Chr.5:177404009 on build GRCh38
Cytoband
5q35.3
Assay ID Hs00981393_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 2161

Gene Name:

 coagulation factor XII

Gene Aliases:

 HAE3, HAEX, HAF

Location:

 Chr.5:177402138-177409576 on Build GRCh38

Assay Gene Location:

 Within Exon 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
F12 NM_000505.3 10 1149 NP_000496.2
XM_011534462.2 7 983 XP_011532764.1
AB095845.1 10 1149 BAC23095.1
BC012390.1 2 272 AAH12390.1
BT007350.1 2 155 AAP36014.1
M11723.1 10 1061 AAA51986.1
M13147.1 5 665 AAA70224.1
M31315.1 10 1091 AAA70225.1

Target Gene Details

Entrez Gene ID:

 6569

Gene Name:

 solute carrier family 34 member 1

Gene Aliases:

 FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2

Location:

 Chr.5:177384431-177412021 on Build GRCh38

Assay Gene Location:

 Within Intron 15
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SLC34A1 XM_017009773.1 XP_016865262.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv471057 Chr.5:177310308 - 177469411 on Build GRCh38 Loss PFN3 SLC34A1 DBN1 RGS14 F12 PRR7-AS1 MXD3 LMAN2 GRK6 PRR7
nsv509103 Chr.5:177308751 - 177414575 on Build GRCh38 Insertion PFN3 SLC34A1 RGS14 F12 MXD3 LMAN2
nsv600364 Chr.5:177299634 - 177432847 on Build GRCh38 Loss NSD1 PFN3 SLC34A1 RAB24 RGS14 F12 PRELID1 MXD3 LMAN2 GRK6
dgv10185n54 Chr.5:177398001 - 177406217 on Build GRCh38 Loss PFN3 SLC34A1 F12
dgv10184n54 Chr.5:177357511 - 177469411 on Build GRCh38 Loss PFN3 SLC34A1 DBN1 RGS14 F12 PRR7-AS1 GRK6 PRR7
nsv1161313 Chr.5:177356552 - 177463415 on Build GRCh38 Duplication PFN3 SLC34A1 DBN1 RGS14 F12 PRR7-AS1 GRK6 PRR7
nsv1161312 Chr.5:177322159 - 177405557 on Build GRCh38 Deletion PFN3 SLC34A1 RGS14 F12 LMAN2
nsv1161311 Chr.5:177305104 - 177546474 on Build GRCh38 Duplication DDX41 PFN3 PDLIM7 DBN1 DOK3 PRR7-AS1 PRELID1 MXD3 LMAN2 FAM193B SLC34A1 RGS14 F12 GRK6 PRR7

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More Information


Set Membership:

 Intragenic Exonic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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