Product Details
- SNP ID
-
rs144720690
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:3898831 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCTGGATGGAGCTCTGTGCTGGAC[C/T]GCAACTAAGAGGACAAAACGGAAGA
- Phenotype
-
MIM: 610192
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GLIS3
PubMed Links
Gene Details
- Gene
- GLIS3
- Gene Name
- GLIS family zinc finger 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001042413.1 |
2052 |
Missense Mutation |
CAG,CGG |
Q663R |
NP_001035878.1 |
| NM_152629.3 |
2052 |
Missense Mutation |
CAG,CGG |
Q508R |
NP_689842.3 |
| XM_005251386.4 |
2052 |
Missense Mutation |
CAG,CGG |
Q508R |
XP_005251443.1 |
| XM_005251387.4 |
2052 |
Missense Mutation |
CAG,CGG |
Q441R |
XP_005251444.1 |
| XM_005251388.4 |
2052 |
Missense Mutation |
CAG,CGG |
Q441R |
XP_005251445.1 |
| XM_005251389.4 |
2052 |
Intron |
|
|
XP_005251446.1 |
| XM_006716731.3 |
2052 |
Intron |
|
|
XP_006716794.1 |
| XM_011517763.2 |
2052 |
Missense Mutation |
CAG,CGG |
Q663R |
XP_011516065.1 |
| XM_011517764.2 |
2052 |
Missense Mutation |
CAG,CGG |
Q663R |
XP_011516066.1 |
| XM_011517765.2 |
2052 |
Missense Mutation |
CAG,CGG |
Q663R |
XP_011516067.1 |
| XM_011517766.2 |
2052 |
Missense Mutation |
CAG,CGG |
Q508R |
XP_011516068.1 |
| XM_011517767.2 |
2052 |
Missense Mutation |
CAG,CGG |
Q441R |
XP_011516069.1 |
| XM_011517769.2 |
2052 |
Intron |
|
|
XP_011516071.1 |
| XM_017014361.1 |
2052 |
Missense Mutation |
CAG,CGG |
Q508R |
XP_016869850.1 |
- Gene
- GLIS3-AS1
- Gene Name
- GLIS3 antisense RNA 1
There are no transcripts associated with this gene.
View Full Product Details