Product Details
- SNP ID
-
rs62639981
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
16
- Location
-
Chr.1:966728 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGAGGACAGCGCGCGGATGTCGGC[C/T]GGCCTGCCGGGCCCCGAGGCTGCTC
- Phenotype
-
MIM: 610770
MIM: 615921
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KLHL17
PubMed Links
Gene Details
- Gene
- KLHL17
- Gene Name
- kelch like family member 17
There are no transcripts associated with this gene.
- Gene
- NOC2L
- Gene Name
- NOC2 like nucleolar associated transcriptional repressor
There are no transcripts associated with this gene.
- Gene
- PERM1
- Gene Name
- PPARGC1 and ESRR induced regulator, muscle 1
There are no transcripts associated with this gene.
- Gene
- PLEKHN1
- Gene Name
- pleckstrin homology domain containing N1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001160184.1 |
820 |
Silent Mutation |
GCC,GCT |
A36A |
NP_001153656.1 |
| NM_032129.2 |
820 |
Silent Mutation |
GCC,GCT |
A36A |
NP_115505.2 |
| XM_006710944.3 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_006711007.2 |
| XM_011542248.2 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_011540550.2 |
| XM_017002474.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857963.1 |
| XM_017002475.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857964.1 |
| XM_017002476.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857965.1 |
| XM_017002477.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857966.1 |
| XM_017002478.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857967.1 |
| XM_017002479.1 |
820 |
Silent Mutation |
GCC,GCT |
A144A |
XP_016857968.1 |
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