Product Details
- SNP ID
-
rs201653966
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:47260965 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCAGGCGGCGCTCCCGGAGATGCCC[A/C]GCGGCAGCCGCGCTCGGGGCTCTAA
- Phenotype
-
MIM: 615384
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
SPIDR
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs192114624] are located under a 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.
Gene Details
- Gene
- SPIDR
- Gene Name
- scaffolding protein involved in DNA repair
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001080394.3 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
NP_001073863.1 |
| NM_001282916.1 |
30 |
UTR 5 |
|
|
NP_001269845.1 |
| NM_001282919.1 |
30 |
UTR 5 |
|
|
NP_001269848.1 |
| XM_005251189.3 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_005251246.1 |
| XM_005251191.3 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_005251248.1 |
| XM_005251193.3 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_005251250.1 |
| XM_005251195.4 |
30 |
UTR 5 |
|
|
XP_005251252.1 |
| XM_005251198.4 |
30 |
UTR 5 |
|
|
XP_005251255.1 |
| XM_005251199.4 |
30 |
Intron |
|
|
XP_005251256.1 |
| XM_006716443.3 |
30 |
UTR 5 |
|
|
XP_006716506.1 |
| XM_006716444.3 |
30 |
UTR 5 |
|
|
XP_006716507.1 |
| XM_011517497.2 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_011515799.1 |
| XM_011517500.2 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_011515802.1 |
| XM_011517507.2 |
30 |
Intron |
|
|
XP_011515809.1 |
| XM_017013268.1 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_016868757.1 |
| XM_017013269.1 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_016868758.1 |
| XM_017013270.1 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_016868759.1 |
| XM_017013271.1 |
30 |
Intron |
|
|
XP_016868760.1 |
| XM_017013272.1 |
30 |
Intron |
|
|
XP_016868761.1 |
| XM_017013273.1 |
30 |
Missense Mutation |
AGC,CGC |
S3R |
XP_016868762.1 |
| XM_017013274.1 |
30 |
UTR 5 |
|
|
XP_016868763.1 |
| XM_017013275.1 |
30 |
Intron |
|
|
XP_016868764.1 |
| XM_017013276.1 |
30 |
Intron |
|
|
XP_016868765.1 |
| XM_017013277.1 |
30 |
UTR 5 |
|
|
XP_016868766.1 |
| XM_017013278.1 |
30 |
UTR 5 |
|
|
XP_016868767.1 |
| XM_017013279.1 |
30 |
Intron |
|
|
XP_016868768.1 |
| XM_017013280.1 |
30 |
UTR 5 |
|
|
XP_016868769.1 |
| XM_017013281.1 |
30 |
UTR 5 |
|
|
XP_016868770.1 |
| XM_017013282.1 |
30 |
UTR 5 |
|
|
XP_016868771.1 |
| XM_017013283.1 |
30 |
Intron |
|
|
XP_016868772.1 |
| XM_017013284.1 |
30 |
UTR 5 |
|
|
XP_016868773.1 |
| XM_017013285.1 |
30 |
UTR 5 |
|
|
XP_016868774.1 |
| XM_017013286.1 |
30 |
Intron |
|
|
XP_016868775.1 |
| XM_017013287.1 |
30 |
UTR 5 |
|
|
XP_016868776.1 |
| XM_017013288.1 |
30 |
Intron |
|
|
XP_016868777.1 |
| XM_017013289.1 |
30 |
Intron |
|
|
XP_016868778.1 |
| XM_017013290.1 |
30 |
Intron |
|
|
XP_016868779.1 |
| XM_017013291.1 |
30 |
Intron |
|
|
XP_016868780.1 |
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