Assay Details
Target Gene Details
Entrez Gene ID: | 582 |
Gene Name: | Bardet-Biedl syndrome 1 |
Gene Aliases: |
BBS2L2 |
Location: |
Chr.11:66510648-66533613 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS1 | NM_024649.4 | 17 | 2921 | NP_078925.3 |
AF503941.1 | 17 | 2921 | AAM92770.1 | |
AK027243.1 | 5 | 1618 | BAB15704.1 | |
AK095638.1 | 15 | 3136 | ||
BC047642.1 | 16 | 2998 | AAH47642.1 | |
BX647612.1 | 17 | 2950 | CAI46060.1 |
Target Gene Details
Entrez Gene ID: | 254359 |
Gene Name: | zinc finger DHHC-type containing 24 |
Gene Aliases: |
- |
Location: |
Chr.11:66520625-66546200 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ZDHHC24 | XM_005273874.3 | XP_005273931.1 | ||
XM_011544894.1 | XP_011543196.1 | |||
AK310561.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522277 | Chr.11:66466552 - 66726354 on Build GRCh38 | Loss | CTSF PELI3 SPTBN2 RBM14 RBM14-RBM4 CCDC87 CCS BBS1 DPP3 ZDHHC24 ACTN3 RBM4B LOC101928069 RBM4 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |