Product Details
- SNP ID
-
rs150716924
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:93736247 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGCTTCTTCAGTAATATCCTCTT[A/C]TTCTAAGTATACACTCAGTCTTACA
- Phenotype
-
MIM: 615810
MIM: 612823
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
C11orf54
PubMed Links
Gene Details
- Gene
- C11orf54
- Gene Name
- chromosome 11 open reading frame 54
There are no transcripts associated with this gene.
- Gene
- CEP295
- Gene Name
- centrosomal protein 295
There are no transcripts associated with this gene.
- Gene
- MIR1304
- Gene Name
- microRNA 1304
There are no transcripts associated with this gene.
- Gene
- SNORA1
- Gene Name
- small nucleolar RNA, H/ACA box 1
There are no transcripts associated with this gene.
- Gene
- SNORA18
- Gene Name
- small nucleolar RNA, H/ACA box 18
There are no transcripts associated with this gene.
- Gene
- SNORA25
- Gene Name
- small nucleolar RNA, H/ACA box 25
There are no transcripts associated with this gene.
- Gene
- SNORA32
- Gene Name
- small nucleolar RNA, H/ACA box 32
There are no transcripts associated with this gene.
- Gene
- SNORA40
- Gene Name
- small nucleolar RNA, H/ACA box 40
There are no transcripts associated with this gene.
- Gene
- SNORA8
- Gene Name
- small nucleolar RNA, H/ACA box 8
There are no transcripts associated with this gene.
- Gene
- SNORD5
- Gene Name
- small nucleolar RNA, C/D box 5
There are no transcripts associated with this gene.
- Gene
- SNORD6
- Gene Name
- small nucleolar RNA, C/D box 6
There are no transcripts associated with this gene.
- Gene
- TAF1D
- Gene Name
- TATA-box binding protein associated factor, RNA polymerase I subunit D
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_024116.3 |
994 |
Missense Mutation |
|
|
NP_077021.1 |
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