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See other COLEC12 CNV Assays ›
Gene Symbol
COLEC12
Assay Reference Genome
Location

Chr.18:343952 on build GRCh38
Cytoband
18p11.32
Assay ID Hs06506136_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 81035

Gene Name:

 collectin subfamily member 12

Gene Aliases:

 CLP1, NSR2, SCARA4, SRCL

Location:

 Chr.18:319355-500729 on Build GRCh38

Assay Gene Location:

 Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COLEC12 NM_130386.2 NP_569057.1
XM_011525741.2 XP_011524043.1
AB005145.1 BAB72147.1
AB034251.1 BAD83592.1
AB038518.1 BAB39147.1
AB052103.1 BAB39148.1
AL713657.1 CAD28466.1
BC060789.1 AAH60789.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv576236 Chr.18:319176 - 794272 on Build GRCh38 Gain LOC105376854 ENOSF1 TYMS CLUL1 YES1 TYMSOS CETN1 COLEC12
nsv576235 Chr.18:289153 - 407958 on Build GRCh38 Gain COLEC12
esv3641484 Chr.18:340895 - 344933 on Build GRCh38 Gain COLEC12
dgv594e214 Chr.18:340957 - 550862 on Build GRCh38 Gain LOC105376854 COLEC12
nsv482935 Chr.18:10001 - 2900002 on Build GRCh38 Loss ROCK1P1 TYMS THOC1 ADCYAP1 LOC388456 LINC00470 CETN1 LOC101926997 LOC105376854 ENOSF1 NDC80 SMCHD1 CLUL1 USP14 YES1 TYMSOS CBX3P2 EMILIN2 MIR8078 METTL4 COLEC12
nsv1066129 Chr.18:258717 - 369148 on Build GRCh38 Gain THOC1 COLEC12
nsv576228 Chr.18:69836 - 1506323 on Build GRCh38 Loss ROCK1P1 TYMS THOC1 ADCYAP1 LOC388456 LINC00470 CETN1 LOC105376854 ENOSF1 CLUL1 USP14 YES1 TYMSOS MIR8078 COLEC12
esv3893056 Chr.18:293519 - 463146 on Build GRCh38 Gain COLEC12

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More Information


Additional Information:

For this assay, SNP(s) [rs73373535] 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 Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Function(s) Process(es)


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