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 | 5 | 1109 | NP_001161067.1 |
NM_014324.5 | 5 | 1109 | NP_055139.4 | |
NM_203382.2 | 4 | 948 | NP_976316.1 | |
AF047020.1 | 5 | 1101 | AAD10205.1 | |
AF158378.1 | 5 | 1078 | AAF22610.1 | |
AJ130733.1 | 5 | 1101 | CAB44062.1 | |
AK000912.1 | 5 | 1094 | ||
AK222831.1 | 5 | 1081 | BAD96551.1 | |
AK225749.1 | 5 | 1118 | ||
AK292988.1 | ||||
AL571115.3 | 1 | 522 | ||
AY935981.1 | 5 | 1022 | AAY16192.1 | |
BC009471.1 | 4 | 864 | AAH09471.1 | |
BQ941482.1 | 3 | 618 | ||
EF560721.1 | 5 | 1032 | ||
FJ498906.1 | 5 | 907 | ||
FJ498907.1 | 5 | 907 | ||
FJ498908.1 | 5 | 1037 |
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 | 1369 | |
AB209261.1 | 9 | 1378 | BAD92498.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
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 C1QTNF3 SLC45A2 |
nsv519240 | Chr.5:33950598 - 34749311 on Build GRCh38 | Gain | LOC105374753 C1QTNF3-AMACR LOC646652 AMACR RAI14 C1QTNF3 SLC45A2 |
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 RXFP3 AMACR ADAMTS12 TARS C1QTNF3 SLC45A2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |