Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGTTTTTTAACCTTTCAGAGGAGA[A/G]AGGCGGATTGGTATCTGATGCCTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603781 MIM: 610218 | ||||||||||||||||||||
Literature Links: |
RECQL5 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
RECQL5 - RecQ like helicase 5 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SAP30BP - SAP30 binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301839.1 | 116 | Missense Mutation | AAA,AGA | K,R 38 | NP_001288768.1 | |
NM_001301855.1 | 116 | Missense Mutation | AAA,AGA | K,R 38 | NP_001288784.1 | |
NM_013260.7 | 116 | Missense Mutation | AAA,AGA | K,R 38 | NP_037392.1 | |
XM_011524693.2 | 116 | Missense Mutation | AAA,AGA | K,R 38 | XP_011522995.1 | |
XM_011524694.2 | 116 | Missense Mutation | AAA,AGA | K,R 38 | XP_011522996.1 | |
XM_011524695.2 | 116 | UTR 5 | XP_011522997.1 | |||
XM_017024545.1 | 116 | Intron | XP_016880034.1 | |||
XM_017024546.1 | 116 | UTR 5 | XP_016880035.1 | |||
XM_017024547.1 | 116 | Intron | XP_016880036.1 | |||
XM_017024548.1 | 116 | UTR 5 | XP_016880037.1 | |||
XM_017024549.1 | 116 | UTR 5 | XP_016880038.1 | |||
XM_017024550.1 | 116 | UTR 5 | XP_016880039.1 |