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See other TMPRSS6 CNV Assays ›
Gene Symbol
TMPRSS6
Assay Reference Genome
Location

Chr.22:37066045 on build GRCh38
Cytoband
22q12.3
Assay ID Hs01112450_cn
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Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 164656

Gene Name:

 transmembrane protease, serine 6

Gene Aliases:

 IRIDA

Location:

 Chr.22:37065436-37109701 on Build GRCh38

Assay Gene Location:

 Within Exon 21
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TMPRSS6 NM_001289000.1 19 2572 NP_001275929.1
NM_001289001.1 18 2516 NP_001275930.1
NM_153609.3 18 2585 NP_705837.1
XM_011529989.2 16 2278 XP_011528291.1
AJ319876.1 CAC85953.1
AY055384.1 18 2585 AAL16414.1
AY358398.1 18 2516 AAQ88764.1
CR456446.1 19 2572 CAG30332.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv829203 Chr.22:36998126 - 37773322 on Build GRCh38 Loss PDXP LOC100506271 MPST KCTD17 TRIOBP C1QTNF6 CARD10 TEX33 LOC101927051 NOL12 TST LGALS2 SH3BP1 CDC42EP1 CYTH4 GGA1 TMPRSS6 SSTR3 RAC2 MFNG LGALS1 LOC102724378 ELFN2 IL2RB
nsv834187 Chr.22:36965603 - 37163260 on Build GRCh38 Loss TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 TEX33 IL2RB
esv34015 Chr.22:36966049 - 37189804 on Build GRCh38 Loss TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 C1QTNF6 TEX33 IL2RB
nsv459882 Chr.22:36967923 - 37161398 on Build GRCh38 Gain TST LL22NC01-81G9.3 MPST KCTD17 TMPRSS6 TEX33 IL2RB
nsv955155 Chr.22:37059261 - 37079760 on Build GRCh38 Deletion KCTD17 TMPRSS6

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More Information


Additional Information:

For this assay, SNP(s) [rs116795891] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Function(s) Process(es)


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