Product Details
- SNP ID
-
rs2233458
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:67174656 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGCAGCTATGACCCTCCATGCCCA[A/G]GCCACTGGACGCCGGAGGCACCCGG
- Phenotype
-
MIM: 614117
MIM: 602438
MIM: 605235
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EXOC3L1
PubMed Links
Gene Details
- Gene
- EXOC3L1
- Gene Name
- exocyst complex component 3 like 1
There are no transcripts associated with this gene.
- Gene
- HSF4
- Gene Name
- heat shock transcription factor 4
There are no transcripts associated with this gene.
- Gene
- KIAA0895L
- Gene Name
- KIAA0895 like
- Gene
- NOL3
- Gene Name
- nucleolar protein 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001185057.2 |
523 |
Silent Mutation |
CAA,CAG |
Q107Q |
NP_001171986.1 |
| NM_001276307.1 |
523 |
Missense Mutation |
AGC,GGC |
S111G |
NP_001263236.1 |
| NM_001276309.1 |
523 |
Missense Mutation |
AGC,GGC |
S111G |
NP_001263238.1 |
| NM_001276311.1 |
523 |
Silent Mutation |
CAA,CAG |
Q69Q |
NP_001263240.1 |
| NM_001276312.1 |
523 |
Missense Mutation |
AGC,GGC |
S111G |
NP_001263241.1 |
| NM_001276319.1 |
523 |
Missense Mutation |
AGC,GGC |
S173G |
NP_001263248.1 |
| NM_003946.6 |
523 |
Missense Mutation |
AGC,GGC |
S111G |
NP_003937.1 |
| XM_005256217.2 |
523 |
Silent Mutation |
CAA,CAG |
Q169Q |
XP_005256274.1 |
| XM_005256219.3 |
523 |
Silent Mutation |
CAA,CAG |
Q131Q |
XP_005256276.1 |
| XM_011523424.2 |
523 |
Silent Mutation |
CAA,CAG |
Q107Q |
XP_011521726.1 |
| XM_017023843.1 |
523 |
Missense Mutation |
AGC,GGC |
S173G |
XP_016879332.1 |
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