Product Details
- SNP ID
-
rs144266699
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:72089084 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACCTTTGAATGATGGCCTGAACT[A/C]TGAACAAACGGGACTATATGAACAC
- Phenotype
-
MIM: 613510
MIM: 612414
MIM: 164009
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
LAMTOR1
PubMed Links
Gene Details
- Gene
- LAMTOR1
- Gene Name
- late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
There are no transcripts associated with this gene.
- Gene
- LRTOMT
- Gene Name
- leucine rich transmembrane and O-methyltransferase domain containing
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001145307.4 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
NP_001138779.1 |
NM_001145308.4 |
960 |
Intron |
|
|
NP_001138780.1 |
NM_001145309.3 |
960 |
UTR 5 |
|
|
NP_001138781.1 |
NM_001145310.3 |
960 |
UTR 5 |
|
|
NP_001138782.1 |
NM_001205138.3 |
960 |
Intron |
|
|
NP_001192067.1 |
NM_001271471.2 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
NP_001258400.1 |
NM_001318803.1 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
NP_001305732.1 |
NM_145309.5 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
NP_660352.1 |
XM_006718473.3 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_006718536.1 |
XM_006718474.3 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_006718537.1 |
XM_011544847.2 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_011543149.1 |
XM_011544848.2 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_011543150.1 |
XM_017017356.1 |
960 |
Intron |
|
|
XP_016872845.1 |
XM_017017357.1 |
960 |
Intron |
|
|
XP_016872846.1 |
XM_017017358.1 |
960 |
Intron |
|
|
XP_016872847.1 |
XM_017017359.1 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_016872848.1 |
XM_017017360.1 |
960 |
Missense Mutation |
ATG,CTG |
M1L |
XP_016872849.1 |
- Gene
- NUMA1
- Gene Name
- nuclear mitotic apparatus protein 1
There are no transcripts associated with this gene.
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