Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 603781 MIM: 610218 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RECQL5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
RECQL5 - RecQ like helicase 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003715.3 | 177 | Intron | NP_001003715.1 | |||
NM_001003716.3 | 177 | Intron | NP_001003716.1 | |||
NM_004259.6 | 177 | Intron | NP_004250.4 | |||
XM_005257818.3 | 177 | Intron | XP_005257875.1 | |||
XM_005257822.3 | 177 | Intron | XP_005257879.1 | |||
XM_005257823.3 | 177 | Intron | XP_005257880.1 | |||
XM_006722186.2 | 177 | Intron | XP_006722249.1 | |||
XM_011525482.2 | 177 | Intron | XP_011523784.1 | |||
XM_011525484.1 | 177 | Intron | XP_011523786.1 | |||
XM_011525485.2 | 177 | Intron | XP_011523787.1 | |||
XM_011525486.2 | 177 | Intron | XP_011523788.1 | |||
XM_017025343.1 | 177 | Intron | XP_016880832.1 | |||
XM_017025344.1 | 177 | Intron | XP_016880833.1 |
SAP30BP - SAP30 binding protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301839.1 | 177 | UTR 5 | NP_001288768.1 | |||
NM_001301855.1 | 177 | UTR 5 | NP_001288784.1 | |||
NM_013260.7 | 177 | UTR 5 | NP_037392.1 | |||
XM_011524693.2 | 177 | Intron | XP_011522995.1 | |||
XM_011524694.2 | 177 | Intron | XP_011522996.1 | |||
XM_011524695.2 | 177 | Intron | XP_011522997.1 | |||
XM_017024545.1 | 177 | Intron | XP_016880034.1 | |||
XM_017024546.1 | 177 | Intron | XP_016880035.1 | |||
XM_017024547.1 | 177 | Intron | XP_016880036.1 | |||
XM_017024548.1 | 177 | Intron | XP_016880037.1 | |||
XM_017024549.1 | 177 | Intron | XP_016880038.1 | |||
XM_017024550.1 | 177 | Intron | XP_016880039.1 |