Assay Details
Target Gene Details
Entrez Gene ID: | 631 |
Gene Name: | beaded filament structural protein 1 |
Gene Aliases: |
CP115, CP94, CTRCT33, LIFL-H |
Location: |
Chr.20:17493905-17569220 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BFSP1 | NM_001161705.1 | 8 | 1193 | NP_001155177.1 |
NM_001195.4 | 8 | 1337 | NP_001186.1 | |
NM_001278606.1 | 9 | 1328 | NP_001265535.1 | |
NM_001278607.1 | 8 | 1189 | NP_001265536.1 | |
NM_001278608.1 | 10 | 1314 | NP_001265537.1 | |
XM_017028005.1 | 7 | 1252 | XP_016883494.1 | |
AF039655.1 | 8 | 1297 | AAB94939.1 | |
AK304673.1 | 10 | 1314 | ||
AK316247.1 | 9 | 1206 | ||
BC041483.1 | 8 | 1193 | AAH41483.1 | |
Y16717.2 | 8 | 1297 | CAA76348.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2760670 | Chr.20:17316866 - 17555369 on Build GRCh38 | Gain | BFSP1 PCSK2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |