Product Details
- SNP ID
-
rs144695451
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:32447701 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAGCTGCCGCACGGCGCTGATCTC[C/T]GTGGGGCTGAGCTGAGCGGTGGGCA
- Phenotype
-
MIM: 612990
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ASXL1
PubMed Links
Gene Details
- Gene
- ASXL1
- Gene Name
- additional sex combs like 1, transcriptional regulator
There are no transcripts associated with this gene.
- Gene
- NOL4L
- Gene Name
- nucleolar protein 4 like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001256798.1 |
2407 |
Silent Mutation |
ACA,ACG |
T646T |
NP_001243727.1 |
| NM_080616.4 |
2407 |
Silent Mutation |
ACA,ACG |
T402T |
NP_542183.2 |
| XM_005260282.4 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_005260339.1 |
| XM_005260283.4 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_005260340.1 |
| XM_005260284.4 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_005260341.1 |
| XM_005260285.4 |
2407 |
Silent Mutation |
ACA,ACG |
T568T |
XP_005260342.2 |
| XM_005260286.4 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_005260343.1 |
| XM_005260288.2 |
2407 |
Silent Mutation |
ACA,ACG |
T402T |
XP_005260345.1 |
| XM_005260289.4 |
2407 |
Silent Mutation |
ACA,ACG |
T402T |
XP_005260346.1 |
| XM_006723702.3 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_006723765.1 |
| XM_006723703.3 |
2407 |
Silent Mutation |
ACA,ACG |
T511T |
XP_006723766.1 |
| XM_011528562.2 |
2407 |
UTR 3 |
|
|
XP_011526864.1 |
| XM_011528563.1 |
2407 |
Intron |
|
|
XP_011526865.1 |
| XM_017027669.1 |
2407 |
Silent Mutation |
ACA,ACG |
T402T |
XP_016883158.1 |
| XM_017027670.1 |
2407 |
UTR 3 |
|
|
XP_016883159.1 |
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