Assay Details
Target Gene Details
Entrez Gene ID: | 145447 |
Gene Name: | abhydrolase domain containing 12B |
Gene Aliases: |
BEM46L3, C14orf29, c14_5314 |
Location: |
Chr.14:50872090-50904970 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABHD12B | NM_001206673.1 | NP_001193602.1 | ||
NM_181533.3 | NP_853511.2 | |||
NM_181814.1 | NP_861535.1 | |||
XM_006720052.1 | XP_006720115.1 | |||
XM_011536472.1 | XP_011534774.1 | |||
XM_011536474.2 | XP_011534776.1 | |||
XM_017021031.1 | XP_016876520.1 | |||
AK128464.1 | BAC87452.1 | |||
AY311396.1 | AAP78476.1 | |||
AY311397.1 | AAP78477.1 | |||
AY311398.1 | AAP78478.1 | |||
AY311399.1 | AAP78479.1 | |||
BC107141.1 | AAI07142.1 | |||
BC107142.1 | AAI07143.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3892542 | Chr.14:50853532 - 50942040 on Build GRCh38 | Loss | ABHD12B PYGL |
nsv832794 | Chr.14:50739915 - 50959891 on Build GRCh38 | Gain | ABHD12B LOC105370489 LOC400212 PYGL NIN |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |