Product Details
- SNP ID
-
rs201919742
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:133367338 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGTTCCAGGTGGTGTCGATGTAGTC[A/G]CGCTGCTCGCTCCACTGGAACCACA
- Phenotype
-
MIM: 185630
MIM: 185660
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
STKLD1
PubMed Links
Gene Details
- Gene
- STKLD1
- Gene Name
- serine/threonine kinase like domain containing 1
There are no transcripts associated with this gene.
- Gene
- SURF2
- Gene Name
- surfeit 2
There are no transcripts associated with this gene.
- Gene
- SURF4
- Gene Name
- surfeit 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001280788.1 |
353 |
Silent Mutation |
CGC,CGT |
R37R |
NP_001267717.1 |
| NM_001280789.1 |
353 |
Silent Mutation |
CGC,CGT |
R52R |
NP_001267718.1 |
| NM_001280790.1 |
353 |
Silent Mutation |
CGC,CGT |
R9R |
NP_001267719.1 |
| NM_001280791.1 |
353 |
Silent Mutation |
CGC,CGT |
R9R |
NP_001267720.1 |
| NM_001280792.1 |
353 |
Silent Mutation |
CGC,CGT |
R52R |
NP_001267721.1 |
| NM_001280793.1 |
353 |
UTR 5 |
|
|
NP_001267722.1 |
| NM_033161.3 |
353 |
Silent Mutation |
CGC,CGT |
R52R |
NP_149351.1 |
| XM_011518943.1 |
353 |
Silent Mutation |
CGC,CGT |
R43R |
XP_011517245.1 |
| XM_011518944.2 |
353 |
Silent Mutation |
CGC,CGT |
R43R |
XP_011517246.1 |
| XM_011518945.2 |
353 |
Nonsense Mutation |
CGA,TGA |
R52* |
XP_011517247.1 |
| XM_017015062.1 |
353 |
Silent Mutation |
CGC,CGT |
R84R |
XP_016870551.1 |
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