Product Details
- SNP ID
-
rs137864015
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:81899936 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCCGTAGGCAAGGTGCCCGGCGA[C/T]GACTGCCCGCTGGTGTGGGGCCAGT
- Phenotype
-
MIM: 604171
MIM: 614534
MIM: 607996
MIM: 602679
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ALYREF
PubMed Links
Gene Details
- Gene
- ALYREF
- Gene Name
- Aly/REF export factor
There are no transcripts associated with this gene.
- Gene
- ANAPC11
- Gene Name
- anaphase promoting complex subunit 11
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001002244.2 |
589 |
Nonsense Mutation |
CGA,TGA |
R143* |
NP_001002244.1 |
| NM_001002245.2 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001002245.1 |
| NM_001002246.2 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001002246.1 |
| NM_001002247.2 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001002247.1 |
| NM_001002248.2 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001002248.1 |
| NM_001002249.2 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001002249.1 |
| NM_001289414.1 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001276343.1 |
| NM_001289415.1 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001276344.1 |
| NM_001289416.1 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001276345.1 |
| NM_001289417.1 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_001276346.1 |
| NM_001289418.1 |
589 |
Nonsense Mutation |
CGA,TGA |
R36* |
NP_001276347.1 |
| NM_001289419.1 |
589 |
Nonsense Mutation |
CGA,TGA |
R36* |
NP_001276348.1 |
| NM_001289420.1 |
589 |
Missense Mutation |
ACG,ATG |
T71M |
NP_001276349.1 |
| NM_016476.11 |
589 |
Silent Mutation |
GAC,GAT |
D42D |
NP_057560.8 |
- Gene
- NPB
- Gene Name
- neuropeptide B
There are no transcripts associated with this gene.
- Gene
- PCYT2
- Gene Name
- phosphate cytidylyltransferase 2, ethanolamine
There are no transcripts associated with this gene.
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