Product Details
- SNP ID
-
rs113705698
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:47915374 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCAGTGACTACCTGCAGCCTGCC[A/G]CCTCCACCACCCAGGCGAGTAGGCA
- Phenotype
-
MIM: 601801
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SP2
PubMed Links
Gene Details
- Gene
- SP2
- Gene Name
- Sp2 transcription factor
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_003110.5 |
929 |
Missense Mutation |
ACC,GCC |
T24A |
NP_003101.3 |
XM_006722023.2 |
929 |
Missense Mutation |
ACC,GCC |
T24A |
XP_006722086.1 |
XM_006722025.2 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_006722088.1 |
XM_006722026.2 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_006722089.1 |
XM_006722027.2 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_006722090.1 |
XM_011525136.2 |
929 |
Missense Mutation |
ACC,GCC |
T128A |
XP_011523438.1 |
XM_011525137.2 |
929 |
Missense Mutation |
ACC,GCC |
T128A |
XP_011523439.1 |
XM_011525138.2 |
929 |
Missense Mutation |
ACC,GCC |
T128A |
XP_011523440.1 |
XM_011525139.2 |
929 |
Missense Mutation |
ACC,GCC |
T84A |
XP_011523441.1 |
XM_011525140.2 |
929 |
Missense Mutation |
ACC,GCC |
T128A |
XP_011523442.1 |
XM_011525142.1 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_011523444.1 |
XM_011525143.1 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_011523445.1 |
XM_017024968.1 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_016880457.1 |
XM_017024969.1 |
929 |
Missense Mutation |
ACC,GCC |
T17A |
XP_016880458.1 |
- Gene
- SP2-AS1
- Gene Name
- SP2 antisense RNA 1
There are no transcripts associated with this gene.
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