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 Exon 11 |
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_005257822.3 | 1 | 454 | XP_005257879.1 | |
XM_005257823.3 | XP_005257880.1 | |||
XM_011525482.2 | XP_011523784.1 | |||
XM_011525484.1 | XP_011523786.1 | |||
XM_011525485.2 | XP_011523787.1 | |||
XM_011525486.2 | XP_011523788.1 | |||
XM_017025343.1 | XP_016880832.1 | |||
AB042824.1 | BAA95953.1 | |||
AF193041.1 | 1 | 459 | AAG22469.1 | |
AK304168.1 | ||||
BC000570.2 | AAH00570.2 | |||
BC063440.1 | AAH63440.1 | |||
EF560729.1 |
Target Gene Details
Entrez Gene ID: | 643008 |
Gene Name: | small integral membrane protein 5 |
Gene Aliases: |
C17orf109, PP12104 |
Location: |
Chr.17:75633434-75641406 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMIM5 | NM_001162995.2 | 1 | 332 | NP_001156467.1 |
XM_011525116.2 | 1 | 320 | XP_011523418.1 | |
XM_017024943.1 | 1 | 320 | XP_016880432.1 | |
XM_017024944.1 | 1 | 320 | XP_016880433.1 |
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 MYO15B SMIM5 RECQL5 ITGB4 SAP30BP GALK1 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | SMIM6 MYO15B CASKIN2 TSEN54 TMEM94 MIR6785 LLGL2 SMIM5 RECQL5 ITGB4 SAP30BP |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | SMIM6 MYO15B CASKIN2 TSEN54 TMEM94 MIR6785 LLGL2 SMIM5 RECQL5 ITGB4 SAP30BP GALK1 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | MIR3678 SMIM6 SLC25A19 MIF4GD MYO15B TSEN54 GGA3 SMIM5 RECQL5 ITGB4 GRB2 LOC100287042 CASKIN2 TMEM94 MIR6785 MRPS7 LLGL2 SAP30BP |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | SMIM6 MYO15B TSEN54 LLGL2 SMIM5 RECQL5 SAP30BP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |