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: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMIM6 | XM_005256903.4 | 1 | 873 | XP_005256960.1 |
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 | SAP30BP SMIM5 ITGB4 GALK1 RECQL5 SMIM6 MYO15B |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | SAP30BP TSEN54 SMIM5 CASKIN2 ITGB4 RECQL5 MIR6785 SMIM6 MYO15B TMEM94 LLGL2 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | SAP30BP TSEN54 SMIM5 CASKIN2 ITGB4 GALK1 RECQL5 MIR6785 SMIM6 MYO15B TMEM94 LLGL2 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | SAP30BP MRPS7 GGA3 SLC25A19 SMIM5 GRB2 CASKIN2 MIR3678 ITGB4 RECQL5 MIR6785 MYO15B TMEM94 LLGL2 LOC100287042 TSEN54 SMIM6 MIF4GD |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | SAP30BP TSEN54 SMIM5 RECQL5 SMIM6 MYO15B LLGL2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |