Product Details
- SNP ID
-
rs150832090
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:13105301 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCTTGCAAGGAAATGTCTTGAGC[C/T]GGGCAGCCCGCTGGGCCACATCTTC
- Phenotype
-
MIM: 151440
MIM: 164005
MIM: 611669
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LYL1
PubMed Links
Gene Details
- Gene
- LYL1
- Gene Name
- LYL1, basic helix-loop-helix family member
There are no transcripts associated with this gene.
- Gene
- NFIX
- Gene Name
- nuclear factor I X
There are no transcripts associated with this gene.
- Gene
- TRMT1
- Gene Name
- tRNA methyltransferase 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001136035.2 |
2357 |
Missense Mutation |
CAG,CGG |
Q600R |
NP_001129507.1 |
| NM_001142554.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q571R |
NP_001136026.1 |
| NM_017722.3 |
2357 |
Missense Mutation |
CAG,CGG |
Q600R |
NP_060192.1 |
| XM_006722793.2 |
2357 |
Missense Mutation |
CAG,CGG |
Q386R |
XP_006722856.1 |
| XM_011528124.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q564R |
XP_011526426.1 |
| XM_011528125.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q386R |
XP_011526427.1 |
| XM_017026944.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q600R |
XP_016882433.1 |
| XM_017026945.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q571R |
XP_016882434.1 |
| XM_017026946.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q357R |
XP_016882435.1 |
| XM_017026947.1 |
2357 |
Missense Mutation |
CAG,CGG |
Q339R |
XP_016882436.1 |
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