Product Details
- SNP ID
-
rs138220870
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:4697051 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCTAGGTCTCCCGCCACTTCTTCC[C/T]GTTCAGCACCTGCAGCTTCTCCAGG
- Phenotype
-
MIM: 607559
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ANKS3
PubMed Links
Gene Details
- Gene
- ANKS3
- Gene Name
- ankyrin repeat and sterile alpha motif domain containing 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001242929.1 |
1911 |
Missense Mutation |
AGG,GGG |
R543G |
NP_001229858.1 |
NM_001308089.1 |
1911 |
Missense Mutation |
AGG,GGG |
R521G |
NP_001295018.1 |
NM_001324129.1 |
1911 |
Missense Mutation |
AGG,GGG |
R477G |
NP_001311058.1 |
NM_001324130.1 |
1911 |
Missense Mutation |
AGG,GGG |
R360G |
NP_001311059.1 |
NM_133450.3 |
1911 |
Missense Mutation |
AGG,GGG |
R650G |
NP_597707.1 |
XM_005255119.3 |
1911 |
Missense Mutation |
AGG,GGG |
R521G |
XP_005255176.1 |
XM_005255121.3 |
1911 |
Missense Mutation |
AGG,GGG |
R444G |
XP_005255178.1 |
XM_011522372.1 |
1911 |
Missense Mutation |
AGG,GGG |
R662G |
XP_011520674.1 |
XM_011522373.1 |
1911 |
Missense Mutation |
AGG,GGG |
R650G |
XP_011520675.1 |
XM_011522374.1 |
1911 |
Missense Mutation |
AGG,GGG |
R543G |
XP_011520676.1 |
XM_011522378.1 |
1911 |
Missense Mutation |
AGG,GGG |
R444G |
XP_011520680.1 |
XM_017022935.1 |
1911 |
Missense Mutation |
AGG,GGG |
R555G |
XP_016878424.1 |
XM_017022936.1 |
1911 |
Missense Mutation |
AGG,GGG |
R444G |
XP_016878425.1 |
- Gene
- MGRN1
- Gene Name
- mahogunin ring finger 1
There are no transcripts associated with this gene.
- Gene
- NUDT16L1
- Gene Name
- nudix hydrolase 16 like 1
There are no transcripts associated with this gene.
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