Product Details
- SNP ID
-
rs201550126
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:210023027 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCATTCCATCTGACTGCTTTTTTGG[A/G]TGGTGGCCATTCTCTGGTACACTGG
- Phenotype
-
MIM: 613833
MIM: 180480
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KANSL1L
PubMed Links
Gene Details
- Gene
- KANSL1L
- Gene Name
- KAT8 regulatory NSL complex subunit 1 like
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001307976.1 |
3967 |
Silent Mutation |
CAC,CAT |
H920H |
NP_001294905.1 |
NM_152519.3 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
NP_689732.2 |
XM_005246328.4 |
3967 |
Silent Mutation |
CAC,CAT |
H995H |
XP_005246385.1 |
XM_005246329.4 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
XP_005246386.1 |
XM_005246330.4 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
XP_005246387.1 |
XM_005246332.4 |
3967 |
Silent Mutation |
CAC,CAT |
H953H |
XP_005246389.1 |
XM_005246334.4 |
3967 |
Intron |
|
|
XP_005246391.1 |
XM_006712320.3 |
3967 |
Intron |
|
|
XP_006712383.1 |
XM_011510706.2 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
XP_011509008.1 |
XM_011510707.2 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
XP_011509009.1 |
XM_011510709.2 |
3967 |
Intron |
|
|
XP_011509011.1 |
XM_011510710.2 |
3967 |
Silent Mutation |
CAC,CAT |
H534H |
XP_011509012.1 |
XM_017003430.1 |
3967 |
Silent Mutation |
CAC,CAT |
H962H |
XP_016858919.1 |
XM_017003431.1 |
3967 |
Silent Mutation |
CAC,CAT |
H489H |
XP_016858920.1 |
- Gene
- LOC101928020
- Gene Name
- uncharacterized LOC101928020
There are no transcripts associated with this gene.
- Gene
- RPE
- Gene Name
- ribulose-5-phosphate-3-epimerase
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