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 5 - Exon 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 | 4 | 1166 | ||
AK309300.1 | 4 | 1171 | ||
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 |
---|---|---|---|
esv3341217 | Chr.3:196246884 - 196248082 on Build GRCh38 | Duplication | PCYT1A |
esv3599278 | Chr.3:196229547 - 196249176 on Build GRCh38 | Gain | SLC51A PCYT1A |
nsv997797 | Chr.3:195931489 - 196486087 on Build GRCh38 | Gain | LINC00885 TM4SF19-AS1 RNF168 TCTEX1D2 ZDHHC19 TM4SF19 PCYT1A TFRC SDHAP1 UBXN7 SLC51A UBXN7-AS1 LOC105374301 TM4SF19-TCTEX1D2 |
esv3599276 | Chr.3:196227560 - 196295937 on Build GRCh38 | Loss | SLC51A TCTEX1D2 PCYT1A |
nsv1009811 | Chr.3:196124925 - 196411200 on Build GRCh38 | Gain | LINC00885 UBXN7 TM4SF19-AS1 SLC51A TM4SF19-TCTEX1D2 TCTEX1D2 ZDHHC19 TM4SF19 PCYT1A |
nsv593071 | Chr.3:196132016 - 196345571 on Build GRCh38 | Gain | LINC00885 TM4SF19-AS1 SLC51A TM4SF19-TCTEX1D2 TCTEX1D2 ZDHHC19 TM4SF19 PCYT1A |
nsv1008512 | Chr.3:195982791 - 196248065 on Build GRCh38 | Gain | LINC00885 SDHAP1 SLC51A LOC105374301 ZDHHC19 PCYT1A TFRC |
esv2759213 | Chr.3:195382058 - 196344722 on Build GRCh38 | Gain+Loss | LINC00885 LOC105374299 LOC105374297 TM4SF19-AS1 TNK2 MUC4 SDHAP2 ACAP2 MUC20 LINC00969 TCTEX1D2 APOD LOC101929697 ZDHHC19 TM4SF19 PPP1R2 PCYT1A TFRC MIR6829 SDHAP1 SLC51A LOC105374301 TM4SF19-TCTEX1D2 MIR570 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |