Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCAGAGGTCTGGGCTGGGTCTGCT[C/T]TAGACGAGGGCTTGACCACACCATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600392 MIM: 605232 | ||||||||||||||||||||
Literature Links: |
RAD52 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
RAD52 - RAD52 homolog, DNA repair protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297419.1 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | NP_001284348.1 | |
NM_001297420.1 | 1439 | Intron | NP_001284349.1 | |||
NM_001297421.1 | 1439 | Missense Mutation | AAA,AGA | K,R 271 | NP_001284350.1 | |
NM_001297422.1 | 1439 | Intron | NP_001284351.1 | |||
NM_134424.3 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | NP_602296.2 | |
XM_005253720.4 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | XP_005253777.1 | |
XM_005253721.2 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | XP_005253778.1 | |
XM_011520990.2 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | XP_011519292.1 | |
XM_011520991.2 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | XP_011519293.1 | |
XM_011520993.2 | 1439 | Intron | XP_011519295.1 | |||
XM_011520995.2 | 1439 | Missense Mutation | AAA,AGA | K,R 250 | XP_011519297.1 | |
XM_017019769.1 | 1439 | Missense Mutation | AAA,AGA | K,R 348 | XP_016875258.1 | |
XM_017019770.1 | 1439 | Missense Mutation | AAA,AGA | K,R 314 | XP_016875259.1 | |
XM_017019771.1 | 1439 | UTR 3 | XP_016875260.1 |
WNK1 - WNK lysine deficient protein kinase 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |