Product Details
- SNP ID
-
rs201728723
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:81905393 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGCATGACCCACCTGGTATGGGT[C/T]GGAGCCATCCCTGTCAGGGATAATT
- Phenotype
-
MIM: 614534
MIM: 607996
MIM: 602679
MIM: 606212
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ANAPC11
PubMed Links
Gene Details
- Gene
- ANAPC11
- Gene Name
- anaphase promoting complex subunit 11
There are no transcripts associated with this gene.
- Gene
- NPB
- Gene Name
- neuropeptide B
There are no transcripts associated with this gene.
- Gene
- PCYT2
- Gene Name
- phosphate cytidylyltransferase 2, ethanolamine
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001184917.2 |
1364 |
Missense Mutation |
AAC,GAC |
N338D |
NP_001171846.1 |
| NM_001256433.2 |
1364 |
Missense Mutation |
AAC,GAC |
N266D |
NP_001243362.1 |
| NM_001256434.2 |
1364 |
Missense Mutation |
AAC,GAC |
N279D |
NP_001243363.1 |
| NM_001256435.2 |
1364 |
Missense Mutation |
AAC,GAC |
N242D |
NP_001243364.1 |
| NM_001282203.1 |
1364 |
Missense Mutation |
AAC,GAC |
N242D |
NP_001269132.1 |
| NM_001282204.1 |
1364 |
Missense Mutation |
AAC,GAC |
N288D |
NP_001269133.1 |
| NM_002861.4 |
1364 |
Missense Mutation |
AAC,GAC |
N320D |
NP_002852.1 |
| XM_005256386.3 |
1364 |
Missense Mutation |
AAC,GAC |
N306D |
XP_005256443.1 |
| XM_005256387.3 |
1364 |
Missense Mutation |
AAC,GAC |
N306D |
XP_005256444.1 |
| XM_006722287.3 |
1364 |
Intron |
|
|
XP_006722350.1 |
| XM_017024910.1 |
1364 |
Intron |
|
|
XP_016880399.1 |
| XM_017024911.1 |
1364 |
Missense Mutation |
AAC,GAC |
N288D |
XP_016880400.1 |
| XM_017024912.1 |
1364 |
Missense Mutation |
AAC,GAC |
N151D |
XP_016880401.1 |
- Gene
- SIRT7
- Gene Name
- sirtuin 7
There are no transcripts associated with this gene.
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