Product Details
- SNP ID
-
rs143619846
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:32234987 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATGTTAGTATCTTTTTGATGAGGT[A/G]AATTGAAGAAGAAGGTGCTAAAAAT
- Phenotype
-
MIM: 606501
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MTMR12
PubMed Links
Gene Details
- Gene
- MTMR12
- Gene Name
- myotubularin related protein 12
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001040446.2 |
1657 |
Missense Mutation |
TCA,TTA |
S496L |
NP_001035536.1 |
NM_001294343.1 |
1657 |
Missense Mutation |
TCA,TTA |
S496L |
NP_001281272.1 |
NM_001294344.1 |
1657 |
Intron |
|
|
NP_001281273.1 |
XM_005248313.3 |
1657 |
Missense Mutation |
TCA,TTA |
S496L |
XP_005248370.1 |
XM_011514057.1 |
1657 |
Missense Mutation |
TCA,TTA |
S528L |
XP_011512359.1 |
XM_011514058.2 |
1657 |
Missense Mutation |
TCA,TTA |
S528L |
XP_011512360.1 |
XM_011514059.1 |
1657 |
Intron |
|
|
XP_011512361.1 |
XM_011514060.1 |
1657 |
Intron |
|
|
XP_011512362.1 |
XM_017009589.1 |
1657 |
Intron |
|
|
XP_016865078.1 |
XM_017009590.1 |
1657 |
Missense Mutation |
TCA,TTA |
S325L |
XP_016865079.1 |
XM_017009591.1 |
1657 |
Missense Mutation |
TCA,TTA |
S325L |
XP_016865080.1 |
XM_017009592.1 |
1657 |
Missense Mutation |
TCA,TTA |
S293L |
XP_016865081.1 |
XM_017009593.1 |
1657 |
Missense Mutation |
TCA,TTA |
S293L |
XP_016865082.1 |
XM_017009594.1 |
1657 |
Missense Mutation |
TCA,TTA |
S293L |
XP_016865083.1 |
XM_017009595.1 |
1657 |
Missense Mutation |
TCA,TTA |
S293L |
XP_016865084.1 |
XM_017009596.1 |
1657 |
Intron |
|
|
XP_016865085.1 |
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