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: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RECQL5 | 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 | |||
AB042824.1 | BAA95953.1 | |||
AK304168.1 | ||||
BC000570.2 | AAH00570.2 | |||
BC063440.1 | AAH63440.1 | |||
EF560729.1 |
Target Gene Details
Entrez Gene ID: | 100130933 |
Gene Name: | small integral membrane protein 6 |
Gene Aliases: |
C17orf110 |
Location: |
Chr.17:75644805-75647977 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMIM6 | NM_001162997.1 | NP_001156469.1 | ||
XM_005256903.4 | XP_005256960.1 | |||
AK131023.1 | ||||
AL041162.1 |
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 | RECQL5 ITGB4 SMIM6 MYO15B SMIM5 SAP30BP GALK1 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | CASKIN2 RECQL5 LLGL2 ITGB4 SMIM6 MYO15B MIR6785 SMIM5 SAP30BP TSEN54 TMEM94 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | CASKIN2 RECQL5 LLGL2 ITGB4 SMIM6 MYO15B MIR6785 SMIM5 SAP30BP TSEN54 TMEM94 GALK1 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | CASKIN2 RECQL5 ITGB4 SLC25A19 SMIM6 MIR6785 LOC100287042 MIF4GD SAP30BP TSEN54 MRPS7 TMEM94 MIR3678 LLGL2 MYO15B SMIM5 GGA3 GRB2 |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | RECQL5 LLGL2 SMIM6 MYO15B SMIM5 SAP30BP TSEN54 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |