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: | 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 |
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 | 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 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |