Product Details
- SNP ID
-
rs147378906
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:46032265 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGGAGGGGTTGGCACTGCCCAGCT[A/G]GGGGGTTGTCCGGCCGTCTGATGAC
- Phenotype
-
MIM: 612452
MIM: 157140
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KANSL1
PubMed Links
Gene Details
- Gene
- KANSL1
- Gene Name
- KAT8 regulatory NSL complex subunit 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001193465.1 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q957* |
NP_001180394.1 |
| NM_001193466.1 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q958* |
NP_001180395.1 |
| NM_015443.3 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q958* |
NP_056258.1 |
| XM_006721823.1 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q958* |
XP_006721886.1 |
| XM_006721824.3 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q958* |
XP_006721887.1 |
| XM_011524628.2 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q957* |
XP_011522930.1 |
| XM_011524629.2 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q924* |
XP_011522931.1 |
| XM_011524630.2 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q895* |
XP_011522932.1 |
| XM_011524631.2 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q894* |
XP_011522933.1 |
| XM_011524632.2 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q548* |
XP_011522934.1 |
| XM_017024488.1 |
1739 |
Nonsense Mutation |
CAG,TAG |
Q894* |
XP_016879977.1 |
| XM_017024489.1 |
1739 |
Intron |
|
|
XP_016879978.1 |
- Gene
- MAPT
- Gene Name
- microtubule associated protein tau
There are no transcripts associated with this gene.
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