Assay Details
Target Gene Details
Entrez Gene ID: | 10217 |
Gene Name: | CTD small phosphatase like |
Gene Aliases: |
C3orf8, HYA22, PSR1, RBSP3, SCP3 |
Location: |
Chr.3:37862152-37984469 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTDSPL | NM_001008392.1 | NP_001008393.1 | ||
NM_005808.2 | NP_005799.2 | |||
XM_017005519.1 | XP_016861008.1 | |||
AI143812.1 | ||||
AI192993.1 | ||||
AJ575644.1 | CAE11804.1 | |||
AJ575645.1 | CAE11805.1 | |||
AY279532.1 | AAP34400.1 | |||
AY364238.1 | AAQ76797.1 | |||
D88153.1 | BAA21667.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522422 | Chr.3:37873431 - 37898917 on Build GRCh38 | Loss | CTDSPL |
nsv834666 | Chr.3:37705337 - 37887017 on Build GRCh38 | Gain+Loss | CTDSPL ITGA9-AS1 ITGA9 |
esv2759140 | Chr.3:37789992 - 38062733 on Build GRCh38 | Loss | PLCD1 CTDSPL ITGA9-AS1 DLEC1 MIR26A1 VILL ITGA9 |
nsv1160928 | Chr.3:37742341 - 37907632 on Build GRCh38 | Duplication | CTDSPL ITGA9-AS1 ITGA9 |
nsv428416 | Chr.3:37864474 - 38062733 on Build GRCh38 | Loss | PLCD1 CTDSPL DLEC1 MIR26A1 VILL |
esv3595895 | Chr.3:37668483 - 37876957 on Build GRCh38 | Gain | CTDSPL ITGA9-AS1 ITGA9 |
esv3595887 | Chr.3:37319289 - 37878005 on Build GRCh38 | Gain | CTDSPL C3orf35 ITGA9-AS1 GOLGA4 ITGA9 |
More Information
Additional Information:
For this assay, SNP(s) [rs114408949] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |