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 | 247 | 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 | 252 | 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 | 539 | NP_001156467.1 |
XM_011525116.2 | XP_011523418.1 | |||
XM_017024943.1 | XP_016880432.1 | |||
XM_017024944.1 | 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 | MYO15B ITGB4 SMIM5 SMIM6 SAP30BP GALK1 RECQL5 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | MYO15B CASKIN2 ITGB4 SMIM5 SMIM6 TSEN54 SAP30BP TMEM94 RECQL5 LLGL2 MIR6785 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | MYO15B CASKIN2 ITGB4 SMIM5 SMIM6 TSEN54 SAP30BP GALK1 TMEM94 RECQL5 LLGL2 MIR6785 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | MYO15B ITGB4 GGA3 SMIM6 TSEN54 MRPS7 SLC25A19 RECQL5 LLGL2 CASKIN2 GRB2 SMIM5 MIR3678 LOC100287042 SAP30BP MIF4GD TMEM94 MIR6785 |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | MYO15B SMIM5 SMIM6 TSEN54 SAP30BP RECQL5 LLGL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |