Assay Details
Target Gene Details
Entrez Gene ID: | 130013 |
Gene Name: | aminocarboxymuconate semialdehyde decarboxylase |
Gene Aliases: |
- |
Location: |
Chr.2:134838319-134902906 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACMSD | NM_001307983.1 | NP_001294912.1 | ||
NM_138326.2 | NP_612199.2 | |||
XM_005263586.4 | 1 | 306 | XP_005263643.1 | |
XM_005263589.4 | 1 | 304 | XP_005263646.1 | |
XM_011510592.2 | 1 | 304 | XP_011508894.1 | |
XM_017003325.1 | 1 | 304 | XP_016858814.1 | |
AK125008.1 | BAC86023.1 | |||
BC016018.1 | AAH16018.1 | |||
BG428338.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2672210 | Chr.2:134837722 - 134838701 on Build GRCh38 | Deletion | ACMSD |
esv3592564 | Chr.2:134837673 - 134838729 on Build GRCh38 | Loss | ACMSD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |