Assay Details
Target Gene Details
Entrez Gene ID: | 6441 |
Gene Name: | surfactant protein D |
Gene Aliases: |
COLEC7, PSP-D, SFTP4, SP-D |
Location: |
Chr.10:79937740-79982236 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SFTPD | XM_011540087.1 | XP_011538389.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv551635 | Chr.10:79925268 - 80212630 on Build GRCh38 | Loss | TMEM254 ANXA11 PLAC9 LINC00857 BMS1P21 TMEM254-AS1 SFTPD |
nsv520754 | Chr.10:79955982 - 79980164 on Build GRCh38 | Loss | SFTPD |
esv3623934 | Chr.10:79923186 - 80075168 on Build GRCh38 | Gain | BMS1P21 TMEM254-AS1 SFTPD |
dgv941n100 | Chr.10:79884324 - 80099035 on Build GRCh38 | Gain | TMEM254 BMS1P21 TMEM254-AS1 SFTPD MBL1P |
nsv551632 | Chr.10:79881442 - 79980164 on Build GRCh38 | Gain | BMS1P21 SFTPD MBL1P |
esv3623931 | Chr.10:79876627 - 79978510 on Build GRCh38 | Gain | BMS1P21 SFTPD MBL1P |
nsv831922 | Chr.10:79921025 - 80074699 on Build GRCh38 | Loss | BMS1P21 TMEM254-AS1 SFTPD MBL1P |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |