Assay Details
Target Gene Details
Entrez Gene ID: | 55556 |
Gene Name: | enolase superfamily member 1 |
Gene Aliases: |
RTS, TYMSAS |
Location: |
Chr.18:670012-712664 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ENOSF1 | NM_001126123.3 | NP_001119595.1 | ||
NM_001318759.1 | NP_001305688.1 | |||
NM_001318760.1 | 6 | 614 | NP_001305689.1 | |
NM_017512.5 | NP_059982.2 | |||
NM_202758.3 | NP_974487.1 | |||
XM_011525679.2 | XP_011523981.2 | |||
XM_017025833.1 | XP_016881322.1 | |||
XM_017025834.1 | XP_016881323.1 | |||
XM_017025835.1 | XP_016881324.1 | |||
XM_017025836.1 | 4 | 1904 | XP_016881325.1 | |
XM_017025837.1 | XP_016881326.1 | |||
AK127219.1 | 1 | 2646 | ||
AK127818.1 | BAC87148.1 | |||
AK292780.1 | ||||
AK309035.1 | ||||
BC001285.1 | AAH01285.2 | |||
BP271162.1 | ||||
BQ710874.1 | ||||
BX648215.1 | 6 | 557 | ||
X67098.1 | CAA47471.1 | |||
X89602.1 | CAA61761.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv576236 | Chr.18:319176 - 794272 on Build GRCh38 | Gain | TYMSOS CETN1 LOC105376854 COLEC12 ENOSF1 TYMS YES1 CLUL1 |
nsv576239 | Chr.18:394946 - 712037 on Build GRCh38 | Gain | TYMSOS CETN1 LOC105376854 COLEC12 ENOSF1 TYMS CLUL1 |
dgv5810n54 | Chr.18:351004 - 2238246 on Build GRCh38 | Gain | TYMSOS CETN1 LOC105376854 COLEC12 ENOSF1 TYMS LINC00470 ADCYAP1 LOC388456 YES1 CLUL1 |
esv2758709 | Chr.18:677302 - 705598 on Build GRCh38 | Loss | ENOSF1 |
nsv576242 | Chr.18:567127 - 841320 on Build GRCh38 | Gain | TYMSOS CETN1 ENOSF1 TYMS YES1 CLUL1 |
esv3641497 | Chr.18:551569 - 745897 on Build GRCh38 | Gain | TYMSOS CETN1 ENOSF1 TYMS YES1 CLUL1 |
nsv528169 | Chr.18:551688 - 2240220 on Build GRCh38 | Loss | TYMSOS CETN1 ENOSF1 TYMS LINC00470 ADCYAP1 LOC388456 YES1 CLUL1 |
nsv1060188 | Chr.18:575087 - 863351 on Build GRCh38 | Gain | TYMSOS CETN1 ENOSF1 TYMS YES1 CLUL1 |
nsv833577 | Chr.18:521331 - 725019 on Build GRCh38 | Gain+Loss | TYMSOS CETN1 ENOSF1 TYMS YES1 CLUL1 |
esv3893055 | Chr.18:415105 - 743226 on Build GRCh38 | Gain | TYMSOS CETN1 LOC105376854 COLEC12 ENOSF1 TYMS YES1 CLUL1 |
nsv482935 | Chr.18:10001 - 2900002 on Build GRCh38 | Loss | TYMSOS CBX3P2 TYMS LINC00470 MIR8078 THOC1 EMILIN2 SMCHD1 YES1 CLUL1 CETN1 LOC101926997 USP14 ROCK1P1 METTL4 NDC80 LOC105376854 COLEC12 ENOSF1 ADCYAP1 LOC388456 |
nsv576228 | Chr.18:69836 - 1506323 on Build GRCh38 | Loss | TYMSOS TYMS LINC00470 MIR8078 THOC1 YES1 CLUL1 CETN1 USP14 ROCK1P1 LOC105376854 COLEC12 ENOSF1 ADCYAP1 LOC388456 |
More Information
Additional Information:
For this assay, SNP(s) [rs114778946] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |