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See other MTMR12 CNV Assays ›
Gene Symbol
MTMR12
Assay Reference Genome
Location

Chr.5:32228343 on build GRCh38
Cytoband
5p13.3
Assay ID Hs01588666_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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Assay Details

Target Gene Details

Entrez Gene ID:

 54545

Gene Name:

 myotubularin related protein 12

Gene Aliases:

 3-PAP, PIP3AP

Location:

 Chr.5:32227007-32313008 on Build GRCh38

Assay Gene Location:

 Within Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MTMR12 NM_001040446.2 16 3849 NP_001035536.1
NM_001294343.1 15 3687 NP_001281272.1
NM_001294344.1 14 3519 NP_001281273.1
XM_011514057.1 18 3969 XP_011512359.1
XM_011514058.2 17 3909 XP_011512360.1
XM_011514059.1 17 3801 XP_011512361.1
XM_011514060.1 15 3579 XP_011512362.1
XM_017009589.1 15 3645 XP_016865078.1
XM_017009590.1 19 3907 XP_016865079.1
XM_017009591.1 17 3918 XP_016865080.1
XM_017009592.1 15 3613 XP_016865081.1
XM_017009593.1 15 3740 XP_016865082.1
XM_017009594.1 16 3801 XP_016865083.1
XM_017009595.1 14 3683 XP_016865084.1
XM_017009596.1 15 3569 XP_016865085.1
AB051469.1 17 3697
AK000967.1
AL833231.1 6 2622 CAH10604.1
BC057393.1 15 3617 AAH57393.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1021781 Chr.5:32102613 - 32412387 on Build GRCh38 Gain ZFR GOLPH3 MTMR12 PDZD2 MIR579
dgv203e55 Chr.5:32114037 - 32260077 on Build GRCh38 Gain GOLPH3 MTMR12
esv3604580 Chr.5:31525629 - 32360060 on Build GRCh38 Gain ZFR MIR4279 DROSHA GOLPH3 MTMR12 PDZD2 C5orf22

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More Information


Additional Information:

For this assay, SNP(s) [rs76497847] 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 -

phosphatase

Gene Ontology Categories:

Function(s) Process(es)


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