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

Chr.12:57797955 on build GRCh38
Cytoband
12q14.1
Assay ID Hs02132723_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:

10677

Gene Name:

advillin

Gene Aliases:

ADVIL, DOC6, p92

Location:

Chr.12:57797372-57818704 on Build GRCh38

Assay Gene Location:

Within Exon 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
AVIL NM_006576.3 19 2416 NP_006567.3
XM_017018710.1 20 2482 XP_016874199.1
XM_017018711.1 20 5228 XP_016874200.1
XM_017018712.1 20 5171 XP_016874201.1
XM_017018713.1 20 4831 XP_016874202.1
XM_017018714.1 12 1631 XP_016874203.1
XM_017018715.1 12 1505 XP_016874204.1
AF041449.1 19 2416 AAC25051.1
AK314362.1 19 2818
BC111730.1 20 2520 AAI11731.1
BX647344.1 9 2333

Target Gene Details

Entrez Gene ID:

10102

Gene Name:

Ts translation elongation factor, mitochondrial

Gene Aliases:

EFTS, EFTSMT

Location:

Chr.12:57782745-57802856 on Build GRCh38

Assay Gene Location:

Within Intron 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSFM NM_001172697.1 NP_001166168.1
AK308981.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv559046 Chr.12:57768302 - 58084815 on Build GRCh38 Gain TSFM MIR26A2 LOC105369783 METTL1 LOC100506844 LOC283387 ATP23 CTDSP2 AVIL METTL21B
nsv470297 Chr.12:57739473 - 57808636 on Build GRCh38 Gain MARCH9 TSFM CYP27B1 METTL1 MIR6759 CDK4 AGAP2 TSPAN31 AVIL METTL21B
nsv510601 Chr.12:57736515 - 57798142 on Build GRCh38 Deletion MARCH9 TSFM CYP27B1 METTL1 MIR6759 CDK4 AGAP2 TSPAN31 AVIL METTL21B

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More Information


Set Membership:

Intragenic Exonic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

non-motor actin binding protein translation elongation factor

Gene Ontology Categories:

Function(s) Process(es)

cytoskeleton organization
nervous system development
positive regulation of neuron projection development
actin filament capping
cilium morphogenesis
translational elongation
regulation of DNA-templated transcription, elongation
mitochondrial translational elongation
actin binding
translation elongation factor activity
poly(A) RNA binding

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