Product Details
- SNP ID
-
rs55776396
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:49024652 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGTTGATCATGAGTGGCAGCTCCAT[A/C]AGGGGGTGGCGCCCATAGCGGAATA
- Phenotype
-
MIM: 602113
MIM: 602742
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
KMT2D
PubMed Links
Gene Details
- Gene
- KMT2D
- Gene Name
- lysine methyltransferase 2D
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_003482.3 |
17266 |
Silent Mutation |
CTG,CTT |
L5326L |
NP_003473.3 |
| XM_005269162.4 |
17266 |
Silent Mutation |
CTG,CTT |
L5326L |
XP_005269219.1 |
| XM_006719614.3 |
17266 |
Silent Mutation |
CTG,CTT |
L5329L |
XP_006719677.1 |
| XM_006719616.3 |
17266 |
Silent Mutation |
CTG,CTT |
L5325L |
XP_006719679.1 |
| XM_011538770.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5329L |
XP_011537072.1 |
| XM_011538771.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5328L |
XP_011537073.1 |
| XM_011538772.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5326L |
XP_011537074.1 |
| XM_011538773.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5325L |
XP_011537075.1 |
| XM_011538774.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5322L |
XP_011537076.1 |
| XM_011538776.2 |
17266 |
Silent Mutation |
CTG,CTT |
L5298L |
XP_011537078.1 |
- Gene
- PRKAG1
- Gene Name
- protein kinase AMP-activated non-catalytic subunit gamma 1
There are no transcripts associated with this gene.
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