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 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RECQL5 | NM_004259.6 | 20 | 3264 | NP_004250.4 |
XM_005257818.3 | 20 | 3340 | XP_005257875.1 | |
XM_005257822.3 | 13 | 2635 | XP_005257879.1 | |
XM_006722186.2 | 13 | 2025 | XP_006722249.1 | |
XM_011525482.2 | 19 | 3807 | XP_011523784.1 | |
XM_011525484.1 | 14 | 2282 | XP_011523786.1 | |
XM_011525485.2 | 14 | 2221 | XP_011523787.1 | |
XM_011525486.2 | 13 | 2208 | XP_011523788.1 | |
XM_017025343.1 | 19 | 3744 | XP_016880832.1 | |
AB042824.1 | 20 | 3264 | BAA95953.1 | |
AF193041.1 | 13 | 2640 | AAG22469.1 | |
AK304168.1 | ||||
AL136869.1 | 4 | 727 | CAB66803.3 | |
BC000570.2 | 14 | 2029 | AAH00570.2 | |
BC005103.1 | 5 | 988 | AAH05103.1 | |
BC063440.1 | 20 | 3136 | AAH63440.1 | |
CR533497.1 | CAG38528.1 | |||
EF560729.1 | 20 | 3229 |
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 GALK1 SAP30BP RECQL5 ITGB4 SMIM5 SMIM6 |
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | MYO15B SAP30BP LLGL2 MIR6785 TMEM94 CASKIN2 RECQL5 ITGB4 SMIM5 SMIM6 TSEN54 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | MYO15B GALK1 SAP30BP LLGL2 MIR6785 TMEM94 CASKIN2 RECQL5 ITGB4 SMIM5 SMIM6 TSEN54 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | GRB2 MYO15B SAP30BP LLGL2 TMEM94 RECQL5 SMIM5 SMIM6 MRPS7 GGA3 SLC25A19 MIR6785 CASKIN2 LOC100287042 ITGB4 MIF4GD TSEN54 MIR3678 |
nsv576032 | Chr.17:75591703 - 75631459 on Build GRCh38 | Gain | MYO15B RECQL5 |
nsv833543 | Chr.17:75517604 - 75692749 on Build GRCh38 | Loss | MYO15B SAP30BP LLGL2 RECQL5 SMIM5 SMIM6 TSEN54 |
More Information
Additional Information:
For this assay, SNP(s) [rs78691378] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |