Assay Details
Target Gene Details
Entrez Gene ID: | 5130 |
Gene Name: | phosphate cytidylyltransferase 1, choline, alpha |
Gene Aliases: |
CCTA, CT, CTA, CTPCT, PCYT1, SMDCRD |
Location: |
Chr.3:196237745-196287752 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCYT1A | NM_001312673.1 | NP_001299602.1 | ||
NM_005017.3 | NP_005008.2 | |||
AK304534.1 | ||||
AK313450.1 | ||||
BC046355.1 | AAH46355.1 | |||
L28957.1 | AAA72127.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3599278 | Chr.3:196229547 - 196249176 on Build GRCh38 | Gain | PCYT1A SLC51A |
nsv997797 | Chr.3:195931489 - 196486087 on Build GRCh38 | Gain | UBXN7-AS1 TFRC PCYT1A SDHAP1 TM4SF19-AS1 UBXN7 TM4SF19-TCTEX1D2 SLC51A LOC105374301 TM4SF19 ZDHHC19 LINC00885 RNF168 TCTEX1D2 |
esv3599276 | Chr.3:196227560 - 196295937 on Build GRCh38 | Loss | PCYT1A SLC51A TCTEX1D2 |
nsv1009811 | Chr.3:196124925 - 196411200 on Build GRCh38 | Gain | TM4SF19 PCYT1A ZDHHC19 LINC00885 TM4SF19-AS1 UBXN7 TM4SF19-TCTEX1D2 SLC51A TCTEX1D2 |
nsv593071 | Chr.3:196132016 - 196345571 on Build GRCh38 | Gain | TM4SF19 PCYT1A ZDHHC19 LINC00885 TM4SF19-AS1 TM4SF19-TCTEX1D2 SLC51A TCTEX1D2 |
nsv1008512 | Chr.3:195982791 - 196248065 on Build GRCh38 | Gain | LOC105374301 TFRC PCYT1A ZDHHC19 LINC00885 SDHAP1 SLC51A |
esv2759213 | Chr.3:195382058 - 196344722 on Build GRCh38 | Gain+Loss | MIR570 TFRC PCYT1A MUC20 APOD SDHAP1 TM4SF19-AS1 SDHAP2 LINC00969 TM4SF19-TCTEX1D2 MUC4 LOC105374297 SLC51A TNK2 LOC105374301 TM4SF19 LOC101929697 ZDHHC19 LINC00885 ACAP2 PPP1R2 MIR6829 LOC105374299 TCTEX1D2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |