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 | 1105 | NP_001299602.1 |
NM_005017.3 | 10 | 1169 | NP_005008.2 | |
AK304534.1 | 9 | 962 | ||
AK313450.1 | 9 | 1027 | ||
BC046355.1 | 10 | 1130 | AAH46355.1 | |
L28957.1 | 9 | 1002 | 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 | LINC00885 UBXN7-AS1 RNF168 UBXN7 TM4SF19-TCTEX1D2 SLC51A TM4SF19 TFRC TM4SF19-AS1 TCTEX1D2 LOC105374301 PCYT1A ZDHHC19 SDHAP1 |
esv3599276 | Chr.3:196227560 - 196295937 on Build GRCh38 | Loss | TCTEX1D2 PCYT1A SLC51A |
nsv1009811 | Chr.3:196124925 - 196411200 on Build GRCh38 | Gain | LINC00885 TCTEX1D2 UBXN7 TM4SF19-TCTEX1D2 PCYT1A SLC51A ZDHHC19 TM4SF19 TM4SF19-AS1 |
nsv593071 | Chr.3:196132016 - 196345571 on Build GRCh38 | Gain | LINC00885 TCTEX1D2 TM4SF19-TCTEX1D2 PCYT1A SLC51A ZDHHC19 TM4SF19 TM4SF19-AS1 |
nsv1008512 | Chr.3:195982791 - 196248065 on Build GRCh38 | Gain | LINC00885 LOC105374301 PCYT1A SLC51A ZDHHC19 TFRC SDHAP1 |
esv2759213 | Chr.3:195382058 - 196344722 on Build GRCh38 | Gain+Loss | LINC00885 MUC4 MIR6829 MIR570 PPP1R2 LOC105374299 TM4SF19-TCTEX1D2 TNK2 LINC00969 SLC51A LOC105374297 TM4SF19 TFRC TM4SF19-AS1 TCTEX1D2 MUC20 LOC105374301 ACAP2 LOC101929697 APOD SDHAP2 PCYT1A ZDHHC19 SDHAP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |