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: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCYT1A | NM_001312673.1 | 9 | 1193 | NP_001299602.1 |
NM_005017.3 | 10 | 1257 | NP_005008.2 | |
AK304534.1 | 9 | 1050 | ||
AK313450.1 | ||||
BC046355.1 | 10 | 1218 | AAH46355.1 | |
L28957.1 | 9 | 1090 | 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 | SLC51A PCYT1A |
nsv997797 | Chr.3:195931489 - 196486087 on Build GRCh38 | Gain | RNF168 ZDHHC19 TM4SF19-TCTEX1D2 LOC105374301 TM4SF19-AS1 TCTEX1D2 UBXN7 UBXN7-AS1 SLC51A TFRC SDHAP1 PCYT1A TM4SF19 LINC00885 |
esv3599276 | Chr.3:196227560 - 196295937 on Build GRCh38 | Loss | SLC51A PCYT1A TCTEX1D2 |
nsv1009811 | Chr.3:196124925 - 196411200 on Build GRCh38 | Gain | SLC51A ZDHHC19 TM4SF19-TCTEX1D2 PCYT1A TM4SF19-AS1 TCTEX1D2 UBXN7 TM4SF19 LINC00885 |
nsv593071 | Chr.3:196132016 - 196345571 on Build GRCh38 | Gain | SLC51A ZDHHC19 TM4SF19-TCTEX1D2 PCYT1A TM4SF19-AS1 TCTEX1D2 TM4SF19 LINC00885 |
nsv1008512 | Chr.3:195982791 - 196248065 on Build GRCh38 | Gain | SLC51A TFRC ZDHHC19 SDHAP1 PCYT1A LOC105374301 LINC00885 |
esv2759213 | Chr.3:195382058 - 196344722 on Build GRCh38 | Gain+Loss | LOC105374299 ZDHHC19 APOD MUC4 TM4SF19-TCTEX1D2 LOC105374301 MIR6829 LOC101929697 TM4SF19-AS1 MUC20 TCTEX1D2 LOC105374297 ACAP2 SLC51A LINC00969 TFRC SDHAP1 PCYT1A MIR570 PPP1R2 SDHAP2 TM4SF19 LINC00885 TNK2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |