Product Details
- SNP ID
-
rs4987207
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:914052 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GGTCTGGGCTGGGTCTGCTCTAGAC[G/T]AGGGCTTGACCACACCATCCCCTGC
- Phenotype
-
MIM: 600392
MIM: 605232
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RAD52
PubMed Links
Gene Details
- Gene
- RAD52
- Gene Name
- RAD52 homolog, DNA repair protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001297419.1 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
NP_001284348.1 |
| NM_001297420.1 |
1433 |
Intron |
|
|
NP_001284349.1 |
| NM_001297421.1 |
1433 |
Nonsense Mutation |
TAG,TCG |
*269S |
NP_001284350.1 |
| NM_001297422.1 |
1433 |
Intron |
|
|
NP_001284351.1 |
| NM_134424.3 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
NP_602296.2 |
| XM_005253720.4 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
XP_005253777.1 |
| XM_005253721.2 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
XP_005253778.1 |
| XM_011520990.2 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
XP_011519292.1 |
| XM_011520991.2 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
XP_011519293.1 |
| XM_011520993.2 |
1433 |
Intron |
|
|
XP_011519295.1 |
| XM_011520995.2 |
1433 |
Nonsense Mutation |
TAG,TCG |
*248S |
XP_011519297.1 |
| XM_017019769.1 |
1433 |
Nonsense Mutation |
TAG,TCG |
*346S |
XP_016875258.1 |
| XM_017019770.1 |
1433 |
Nonsense Mutation |
TAG,TCG |
*312S |
XP_016875259.1 |
| XM_017019771.1 |
1433 |
UTR 3 |
|
|
XP_016875260.1 |
- Gene
- WNK1
- Gene Name
- WNK lysine deficient protein kinase 1
There are no transcripts associated with this gene.
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