Assay Details
Target Gene Details
Entrez Gene ID: | 23600 |
Gene Name: | alpha-methylacyl-CoA racemase |
Gene Aliases: |
AMACRD, CBAS4, RACE, RM |
Location: |
Chr.5:33986986-34008115 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AMACR | NM_001167595.1 | 6 | 1418 | NP_001161067.1 |
NM_014324.5 | 5 | 2167 | NP_055139.4 | |
NM_203382.2 | 4 | 2006 | NP_976316.1 | |
BC009471.1 | 4 | 1922 | AAH09471.1 | |
FJ498906.1 | 5 | 1965 | ||
FJ498907.1 | 6 | 1216 | ||
FJ498908.1 | 5 | 2095 |
Target Gene Details
Entrez Gene ID: | 100534612 |
Gene Name: | C1QTNF3-AMACR readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.5:33986986-34124528 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C1QTNF3-AMACR | NR_037951.1 | 9 | 2427 | |
AB209261.1 | 9 | 2436 | BAD92498.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv32686 | Chr.5:33985741 - 33988690 on Build GRCh38 | Loss | C1QTNF3-AMACR AMACR |
esv3604666 | Chr.5:33947465 - 34004885 on Build GRCh38 | Gain | C1QTNF3-AMACR AMACR SLC45A2 |
nsv830255 | Chr.5:33929507 - 34109160 on Build GRCh38 | Loss | C1QTNF3-AMACR RXFP3 AMACR SLC45A2 C1QTNF3 |
nsv519240 | Chr.5:33950598 - 34749311 on Build GRCh38 | Gain | C1QTNF3-AMACR RAI14 LOC105374753 AMACR SLC45A2 LOC646652 C1QTNF3 |
nsv1019937 | Chr.5:33921280 - 33990689 on Build GRCh38 | Loss | C1QTNF3-AMACR RXFP3 AMACR SLC45A2 |
nsv522715 | Chr.5:33319157 - 34037875 on Build GRCh38 | Gain | C1QTNF3-AMACR ADAMTS12 RXFP3 TARS AMACR SLC45A2 C1QTNF3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |