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See other ABHD12 CNV Assays ›
Gene Symbol
ABHD12
Assay Reference Genome
Location

Chr.20:25297991 on build GRCh38
Cytoband
20p11.21
Assay ID Hs01809569_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 26090

Gene Name:

 abhydrolase domain containing 12

Gene Aliases:

 ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2

Location:

 Chr.20:25294743-25390982 on Build GRCh38

Assay Gene Location:

 Within Intron 16
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ABHD12 NM_015600.4 NP_056415.1
BC014049.2 AAH14049.1

Target Gene Details

Entrez Gene ID:

 5834

Gene Name:

 phosphorylase, glycogen; brain

Gene Aliases:

 GPBB

Location:

 Chr.20:25248070-25298012 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PYGB NM_002862.3 NP_002853.2
AB209080.1 BAD92317.1
AF432222.1 AAL99928.1
BC017045.2 AAH17045.1
BC030795.2 AAH30795.1
J03544.1 AAA59597.1
U47025.1 AAB60395.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv779e214 Chr.20:25104610 - 25367702 on Build GRCh38 Gain ABHD12 PYGB LOC105372580 LOC101926889 ENTPD6 LOC284798
nsv522873 Chr.20:23923336 - 26134874 on Build GRCh38 Gain NANP GINS1 LOC105372582 LOC101926955 LOC105372580 LOC101926889 LOC284798 SYNDIG1 ZNF337-AS1 LOC100134868 ZNF337 LOC101926935 APMAP NCOR1P1 VN1R108P NINL GGTLC1 VSX1 PYGB FAM182A FAM182B LOC105372585 ACSS1 ABHD12 FLJ33581 CST7 ENTPD6
nsv585746 Chr.20:25090818 - 25489420 on Build GRCh38 Gain GINS1 ABHD12 PYGB LOC105372580 LOC101926889 ENTPD6 LOC284798 NINL
dgv4290n100 Chr.20:25086650 - 25494993 on Build GRCh38 Gain GINS1 ABHD12 PYGB LOC105372580 LOC101926889 ENTPD6 LOC284798 NINL
esv3645583 Chr.20:25284710 - 25318462 on Build GRCh38 Gain ABHD12 PYGB
nsv833948 Chr.20:25251090 - 25429904 on Build GRCh38 Loss GINS1 ABHD12 PYGB

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More Information


Additional Information:

For this assay, SNP(s) [rs72146302] 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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