Product Details
- SNP ID
-
rs140207841
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:58521077 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGTAGTTCTCATAATGTGTCTCCC[A/G]TGTCACATCCTTCAGGTCCTGCATG
- Phenotype
-
MIM: 603559
MIM: 603696
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
MTMR4
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs1057068] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
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 |
1005 |
Missense Mutation |
CGG,TGG |
R392W |
NP_001185642.1 |
NM_001256782.1 |
1005 |
Missense Mutation |
CGG,TGG |
R415W |
NP_001243711.1 |
NM_001256822.1 |
1005 |
Missense Mutation |
CGG,TGG |
R253W |
NP_001243751.1 |
NM_004574.4 |
1005 |
Missense Mutation |
CGG,TGG |
R400W |
NP_004565.1 |
NM_080415.3 |
1005 |
UTR 3 |
|
|
NP_536340.1 |
NM_080416.3 |
1005 |
Missense Mutation |
CGG,TGG |
R381W |
NP_536341.1 |
XM_006721949.2 |
1005 |
Missense Mutation |
CGG,TGG |
R405W |
XP_006722012.1 |
XM_006721950.3 |
1005 |
Missense Mutation |
CGG,TGG |
R306W |
XP_006722013.1 |
XM_006721951.2 |
1005 |
Missense Mutation |
CGG,TGG |
R301W |
XP_006722014.1 |
XM_006721952.2 |
1005 |
Missense Mutation |
CGG,TGG |
R282W |
XP_006722015.1 |
XM_006721954.2 |
1005 |
Missense Mutation |
CGG,TGG |
R253W |
XP_006722017.1 |
XM_006721955.2 |
1005 |
Missense Mutation |
CGG,TGG |
R253W |
XP_006722018.1 |
XM_011524911.1 |
1005 |
Missense Mutation |
CGG,TGG |
R253W |
XP_011523213.1 |
XM_011524912.1 |
1005 |
Missense Mutation |
CGG,TGG |
R253W |
XP_011523214.1 |
- Gene
- SEPT4-AS1
- Gene Name
- SEPT4 antisense RNA 1
There are no transcripts associated with this gene.
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