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 Intron 18 - Intron 19 |
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 | |||
AK299697.1 | ||||
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 | LOC101926889 ABHD12 LOC105372580 ENTPD6 LOC284798 PYGB |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | VN1R108P FAM182A ENTPD6 NCOR1P1 ZNF337 LOC100134868 NANP FAM182B LOC101926935 PYGB NINL LOC105372585 LOC101926889 SYNDIG1 CST7 ZNF337-AS1 VSX1 LOC105372582 LOC101926955 GGTLC1 APMAP FLJ33581 ABHD12 LOC105372580 ACSS1 GINS1 LOC284798 |
nsv585746 | Chr.20:25090818 - 25489420 on Build GRCh38 | Gain | NINL LOC101926889 ABHD12 LOC105372580 GINS1 ENTPD6 LOC284798 PYGB |
dgv4290n100 | Chr.20:25086650 - 25494993 on Build GRCh38 | Gain | NINL LOC101926889 ABHD12 LOC105372580 GINS1 ENTPD6 LOC284798 PYGB |
esv3645583 | Chr.20:25284710 - 25318462 on Build GRCh38 | Gain | ABHD12 PYGB |
nsv833948 | Chr.20:25251090 - 25429904 on Build GRCh38 | Loss | ABHD12 GINS1 PYGB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |