Product Details
- SNP ID
-
rs1057068
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:58521078 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GGTAGTTCTCATAATGTGTCTCCCG[C/T]GTCACATCCTTCAGGTCCTGCATGT
- Phenotype
-
MIM: 603559
MIM: 603696
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MTMR4
PubMed Links
Gene Details
- Gene
- MTMR4
- Gene Name
- myotubularin related protein 4
There are no transcripts associated with this gene.
- Gene
- SEPT4
- Gene Name
- septin 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001198713.1 |
1004 |
Silent Mutation |
ACA,ACG |
T391T |
NP_001185642.1 |
| NM_001256782.1 |
1004 |
Silent Mutation |
ACA,ACG |
T414T |
NP_001243711.1 |
| NM_001256822.1 |
1004 |
Silent Mutation |
ACA,ACG |
T252T |
NP_001243751.1 |
| NM_004574.4 |
1004 |
Silent Mutation |
ACA,ACG |
T399T |
NP_004565.1 |
| NM_080415.3 |
1004 |
UTR 3 |
|
|
NP_536340.1 |
| NM_080416.3 |
1004 |
Silent Mutation |
ACA,ACG |
T380T |
NP_536341.1 |
| XM_006721949.2 |
1004 |
Silent Mutation |
ACA,ACG |
T404T |
XP_006722012.1 |
| XM_006721950.3 |
1004 |
Silent Mutation |
ACA,ACG |
T305T |
XP_006722013.1 |
| XM_006721951.2 |
1004 |
Silent Mutation |
ACA,ACG |
T300T |
XP_006722014.1 |
| XM_006721952.2 |
1004 |
Silent Mutation |
ACA,ACG |
T281T |
XP_006722015.1 |
| XM_006721954.2 |
1004 |
Silent Mutation |
ACA,ACG |
T252T |
XP_006722017.1 |
| XM_006721955.2 |
1004 |
Silent Mutation |
ACA,ACG |
T252T |
XP_006722018.1 |
| XM_011524911.1 |
1004 |
Silent Mutation |
ACA,ACG |
T252T |
XP_011523213.1 |
| XM_011524912.1 |
1004 |
Silent Mutation |
ACA,ACG |
T252T |
XP_011523214.1 |
- Gene
- SEPT4-AS1
- Gene Name
- SEPT4 antisense RNA 1
There are no transcripts associated with this gene.
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