Product Details
- SNP ID
-
rs12848272
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:53236359 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGTCTCGCAGGGAACTGCTGAGTGC[C/G]CCCCGTTTGAGCCCATCGCCTGCCC
- Phenotype
-
MIM: 300522
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
IQSEC2
PubMed Links
Gene Details
- Gene
- IQSEC2
- Gene Name
- IQ motif and Sec7 domain 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001111125.2 |
3611 |
Silent Mutation |
GGC,GGG |
G1138G |
NP_001104595.1 |
| NM_001243197.1 |
3611 |
Intron |
|
|
NP_001230126.1 |
| NM_015075.1 |
3611 |
Silent Mutation |
GGC,GGG |
G933G |
NP_055890.1 |
| XM_006724579.2 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_006724642.1 |
| XM_006724580.3 |
3611 |
Silent Mutation |
GGC,GGG |
G933G |
XP_006724643.1 |
| XM_006724581.3 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_006724644.1 |
| XM_006724582.3 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_006724645.1 |
| XM_006724583.3 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_006724646.1 |
| XM_006724584.2 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_006724647.1 |
| XM_011530773.2 |
3611 |
Silent Mutation |
GGC,GGG |
G901G |
XP_011529075.1 |
| XM_011530774.2 |
3611 |
Silent Mutation |
GGC,GGG |
G1170G |
XP_011529076.1 |
| XM_011530776.1 |
3611 |
Intron |
|
|
XP_011529078.1 |
| XM_011530777.1 |
3611 |
Intron |
|
|
XP_011529079.1 |
| XM_017029359.1 |
3611 |
Silent Mutation |
GGC,GGG |
G1128G |
XP_016884848.1 |
| XM_017029360.1 |
3611 |
Silent Mutation |
GGC,GGG |
G972G |
XP_016884849.1 |
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