Name: [Hs02416132_cn] [ABHD12]
Creator: Thermo Fisher Scientific
Keywords: [ABHD12] Assay, [abhydrolase domain containing 12] Assay

Genomic Map

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Assay 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
ABHD12	BC014049.2			AAH14049.1

Entrez Gene ID:	5834
Gene Name:	phosphorylase, glycogen; brain
Gene Aliases:	GPBB
Location:	Chr.20:25248070-25298012 on Build GRCh38
Assay Gene Location:	Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGB	NM_002862.3	20	2761	NP_002853.2
	AB209080.1	20	2719	BAD92317.1
	AF432222.1	5	729	AAL99928.1
	AK299697.1	20	2685
	BC017045.2	20	2736	AAH17045.1
	BC030795.2	20	2737	AAH30795.1
	J03544.1			AAA59597.1
	U47025.1	20	2686	AAB60395.1

Release date: 2016-05-15, GRCh GRCh38

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