Assay Details
Target Gene Details
Entrez Gene ID: | 583 |
Gene Name: | Bardet-Biedl syndrome 2 |
Gene Aliases: |
BBS, RP74 |
Location: |
Chr.16:56470403-56520096 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS2 | XM_005256080.2 | XP_005256137.1 |
Target Gene Details
Entrez Gene ID: | 55239 |
Gene Name: | 2-oxoglutarate and iron dependent oxygenase domain containing 1 |
Gene Aliases: |
TPA1 |
Location: |
Chr.16:56451480-56477495 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OGFOD1 | NM_001324357.1 | 13 | 2801 | NP_001311286.1 |
NM_001324358.1 | 13 | 2983 | NP_001311287.1 | |
NM_001324359.1 | 13 | 2596 | NP_001311288.1 | |
NM_001324360.1 | 13 | 2839 | NP_001311289.1 | |
NM_001324361.1 | 13 | 2561 | NP_001311290.1 | |
NM_001324362.1 | 13 | 2533 | NP_001311291.1 | |
NM_001324363.1 | 12 | 2690 | NP_001311292.1 | |
NM_018233.3 | 13 | 2772 | NP_060703.3 | |
AB046832.1 | 13 | 2695 | ||
AK024314.1 | 10 | 2279 | BAB14880.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833243 | Chr.16:56375371 - 56549461 on Build GRCh38 | Gain | BBS2 OGFOD1 NUDT21 AMFR |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |