Product Details
- SNP ID
-
rs189325962
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:9653721 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGGATATCTGTGGCCACTATCCCC[A/G]GCACATCGTGTTCCTGGAGTATGAG
- Phenotype
-
MIM: 611089
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MTMR14
PubMed Links
Gene Details
- Gene
- MTMR14
- Gene Name
- myotubularin related protein 14
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001077525.2 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
NP_001070993.1 |
| NM_001077526.2 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
NP_001070994.1 |
| NM_022485.4 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
NP_071930.2 |
| XM_005265400.1 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
XP_005265457.1 |
| XM_011534012.1 |
580 |
Intron |
|
|
XP_011532314.1 |
| XM_011534013.1 |
580 |
Intron |
|
|
XP_011532315.1 |
| XM_017007034.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862523.1 |
| XM_017007035.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862524.1 |
| XM_017007036.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862525.1 |
| XM_017007037.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862526.1 |
| XM_017007038.1 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
XP_016862527.1 |
| XM_017007039.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862528.1 |
| XM_017007040.1 |
580 |
Missense Mutation |
CAG,CGG |
Q110R |
XP_016862529.1 |
| XM_017007041.1 |
580 |
Intron |
|
|
XP_016862530.1 |
| XM_017007042.1 |
580 |
Missense Mutation |
CAG,CGG |
Q87R |
XP_016862531.1 |
| XM_017007043.1 |
580 |
Intron |
|
|
XP_016862532.1 |
| XM_017007044.1 |
580 |
UTR 5 |
|
|
XP_016862533.1 |
| XM_017007045.1 |
580 |
UTR 5 |
|
|
XP_016862534.1 |
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