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 Intron 6 |
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 | ||||
AK309073.1 | ||||
AK309300.1 | ||||
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 LINC00885 SDHAP1 TM4SF19-TCTEX1D2 TFRC PCYT1A TCTEX1D2 UBXN7 LOC105374301 TM4SF19 ZDHHC19 TM4SF19-AS1 RNF168 SLC51A |
esv3599276 | Chr.3:196227560 - 196295937 on Build GRCh38 | Loss | TCTEX1D2 PCYT1A SLC51A |
nsv1009811 | Chr.3:196124925 - 196411200 on Build GRCh38 | Gain | TCTEX1D2 UBXN7 LINC00885 TM4SF19-TCTEX1D2 TM4SF19 ZDHHC19 TM4SF19-AS1 PCYT1A SLC51A |
nsv593071 | Chr.3:196132016 - 196345571 on Build GRCh38 | Gain | TCTEX1D2 LINC00885 TM4SF19-TCTEX1D2 TM4SF19 ZDHHC19 TM4SF19-AS1 PCYT1A SLC51A |
nsv1008512 | Chr.3:195982791 - 196248065 on Build GRCh38 | Gain | LINC00885 SDHAP1 LOC105374301 ZDHHC19 TFRC PCYT1A SLC51A |
esv2759213 | Chr.3:195382058 - 196344722 on Build GRCh38 | Gain+Loss | TNK2 LINC00885 SDHAP1 ACAP2 APOD TM4SF19-TCTEX1D2 SDHAP2 TFRC PCYT1A LINC00969 MIR6829 TCTEX1D2 LOC105374299 LOC105374297 LOC101929697 LOC105374301 MUC20 TM4SF19 MIR570 ZDHHC19 TM4SF19-AS1 MUC4 PPP1R2 SLC51A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |