Product Details
- SNP ID
-
rs113847291
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:73235525 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGAATGGAAGTGTGTCCTTACTGT[A/T]AGAAGCCATTTAAACGATTAAAATC
- Phenotype
-
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
C17orf80
PubMed Links
Gene Details
- Gene
- C17orf80
- Gene Name
- chromosome 17 open reading frame 80
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001100621.2 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
NP_001094091.1 |
| NM_001100622.2 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
NP_001094092.1 |
| NM_001288770.1 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
NP_001275699.1 |
| NM_001288771.1 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
NP_001275700.1 |
| NM_017941.5 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
NP_060411.2 |
| XM_005257487.3 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
XP_005257544.1 |
| XM_006721966.3 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
XP_006722029.1 |
| XM_011524961.1 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
XP_011523263.1 |
| XM_011524962.2 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
XP_011523264.1 |
| XM_017024806.1 |
178 |
Nonsense Mutation |
AAG,TAG |
K15* |
XP_016880295.1 |
- Gene
- CPSF4L
- Gene Name
- cleavage and polyadenylation specific factor 4 like
There are no transcripts associated with this gene.
- Gene
- FAM104A
- Gene Name
- family with sequence similarity 104 member A
There are no transcripts associated with this gene.
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