Assay Details
Target Gene Details
Entrez Gene ID: | 9400 |
Gene Name: | RecQ like helicase 5 |
Gene Aliases: |
RECQ5 |
Location: |
Chr.17:75626845-75667202 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RECQL5 | NM_001003715.3 | NP_001003715.1 | ||
NM_001003716.3 | NP_001003716.1 | |||
NM_004259.6 | NP_004250.4 | |||
XM_005257818.3 | XP_005257875.1 | |||
XM_005257823.3 | XP_005257880.1 | |||
XM_011525482.2 | XP_011523784.1 | |||
XM_017025343.1 | XP_016880832.1 | |||
XM_017025344.1 | XP_016880833.1 | |||
AB042823.1 | BAA95952.1 | |||
AB042824.1 | BAA95953.1 | |||
AB042825.1 | BAA95954.1 | |||
AK075084.1 | ||||
AK304168.1 | ||||
BC016911.1 | AAH16911.1 | |||
BC063440.1 | AAH63440.1 | |||
DB091647.1 | ||||
EF560729.1 |
Target Gene Details
Entrez Gene ID: | 29115 |
Gene Name: | SAP30 binding protein |
Gene Aliases: |
HCNGP, HTRG, HTRP |
Location: |
Chr.17:75667116-75708062 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SAP30BP | NM_001301839.1 | NP_001288768.1 | ||
NM_001301855.1 | NP_001288784.1 | |||
NM_013260.7 | NP_037392.1 | |||
NR_126036.1 | ||||
NR_126037.1 | ||||
AF450482.1 | AAL47177.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833544 | Chr.17:75595541 - 75771639 on Build GRCh38 | Loss | SMIM6 SMIM5 ITGB4 MYO15B SAP30BP RECQL5 GALK1 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | TMEM94 SMIM6 MIR6785 SMIM5 ITGB4 LLGL2 MYO15B SAP30BP RECQL5 TSEN54 CASKIN2 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | TMEM94 SMIM6 MIR6785 SMIM5 ITGB4 LLGL2 MYO15B SAP30BP RECQL5 TSEN54 GALK1 CASKIN2 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | TMEM94 MIR6785 SMIM5 LLGL2 MYO15B SAP30BP RECQL5 GRB2 GGA3 CASKIN2 SMIM6 MIF4GD MRPS7 LOC100287042 MIR3678 SLC25A19 ITGB4 TSEN54 |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | SMIM6 SMIM5 LLGL2 MYO15B SAP30BP RECQL5 TSEN54 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |