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 Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABHD12 | NM_001042472.2 | 13 | 1521 | NP_001035937.1 |
NM_015600.4 | NP_056415.1 | |||
XM_011529214.2 | 14 | 1299 | XP_011527516.1 | |
XM_017027796.1 | 14 | 1372 | XP_016883285.1 | |
AK075023.1 | 13 | 1252 | BAC11357.1 | |
AK290815.1 | 13 | 1252 | ||
AK293495.1 | ||||
AL117442.1 | 10 | 789 | CAB55927.1 | |
BC014049.2 | AAH14049.1 | |||
BQ574269.1 | 1 | 620 | ||
BQ672998.1 | 4 | 404 |
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 | LOC105372580 ABHD12 LOC101926889 PYGB ENTPD6 LOC284798 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | LOC101926935 FAM182A VN1R108P CST7 ZNF337-AS1 LOC101926955 LOC100134868 NANP LOC105372580 ABHD12 NINL LOC105372582 PYGB GGTLC1 FLJ33581 SYNDIG1 GINS1 FAM182B VSX1 ZNF337 ACSS1 LOC105372585 LOC101926889 NCOR1P1 APMAP ENTPD6 LOC284798 |
nsv585746 | Chr.20:25090818 - 25489420 on Build GRCh38 | Gain | GINS1 LOC105372580 ABHD12 LOC101926889 NINL PYGB ENTPD6 LOC284798 |
dgv4290n100 | Chr.20:25086650 - 25494993 on Build GRCh38 | Gain | GINS1 LOC105372580 ABHD12 LOC101926889 NINL PYGB ENTPD6 LOC284798 |
esv3645583 | Chr.20:25284710 - 25318462 on Build GRCh38 | Gain | ABHD12 PYGB |
nsv833948 | Chr.20:25251090 - 25429904 on Build GRCh38 | Loss | GINS1 ABHD12 PYGB |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |