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See other AKR1D1 CNV Assays ›
Gene Symbol
AKR1D1
Assay Reference Genome
Location

Chr.7:138112259 on build GRCh38
Cytoband
7q33
Assay ID Hs03634422_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 6718

Gene Name:

 aldo-keto reductase family 1, member D1

Gene Aliases:

 3o5bred, CBAS2, SRD5B1

Location:

 Chr.7:138076432-138118304 on Build GRCh38

Assay Gene Location:

 Within Intron 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
AKR1D1 NM_001190906.1 NP_001177835.1
NM_001190907.1 NP_001177836.1
NM_005989.3 NP_005980.1
AK058142.1 BAB71682.1
AK289425.1
AK298421.1
AK298428.1
BC130625.1
BC130627.1
Z28339.1 CAA82193.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv34048 Chr.7:138039346 - 138528374 on Build GRCh38 Loss MIR4468 AKR1D1 TRIM24
esv33947 Chr.7:137235266 - 138283104 on Build GRCh38 Gain LOC100130880 MIR4468 PTN CREB3L2 AKR1D1 LOC105375527 DGKI
esv2735212 Chr.7:138060002 - 140415947 on Build GRCh38 Deletion SVOPL KLRG2 LUC7L2 LOC105375531 TMEM213 HIPK2 JHDM1D-AS1 RAB19 UBN2 TTC26 CLEC2L KDM7A LOC105375532 FMC1 KIAA1549 ZC3HAV1 ZC3HAV1L AKR1D1 PARP12 TBXAS1 MIR4468 ATP6V0A4 C7orf55-LUC7L2 LOC100129148 SLC37A3 TRIM24
nsv518070 Chr.7:137849881 - 138124093 on Build GRCh38 Gain LOC100130880 MIR4468 CREB3L2 AKR1D1
nsv831151 Chr.7:138026701 - 138180725 on Build GRCh38 Gain+Loss MIR4468 AKR1D1

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More Information


Additional Information:

For this assay, SNP(s) [rs114832966] 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:

Gene Ontology Categories:

Function(s) Process(es)


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