Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGATGCCGACTCTTGAGGGGGACA[A/G]TGGGAGGCGAGGTGGGCGCTGCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 612452 MIM: 157140 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KANSL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
KANSL1 - KAT8 regulatory NSL complex subunit 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193465.1 | 2121 | Missense Mutation | ACT,ATT | T,I 1084 | NP_001180394.1 | |
NM_001193466.1 | 2121 | Missense Mutation | ACT,ATT | T,I 1085 | NP_001180395.1 | |
NM_015443.3 | 2121 | Missense Mutation | ACT,ATT | T,I 1085 | NP_056258.1 | |
XM_006721823.1 | 2121 | Missense Mutation | ACT,ATT | T,I 1085 | XP_006721886.1 | |
XM_006721824.3 | 2121 | Missense Mutation | ACT,ATT | T,I 1085 | XP_006721887.1 | |
XM_011524628.2 | 2121 | Missense Mutation | ACT,ATT | T,I 1084 | XP_011522930.1 | |
XM_011524629.2 | 2121 | Missense Mutation | ACT,ATT | T,I 1051 | XP_011522931.1 | |
XM_011524630.2 | 2121 | Missense Mutation | ACT,ATT | T,I 1022 | XP_011522932.1 | |
XM_011524631.2 | 2121 | Missense Mutation | ACT,ATT | T,I 1021 | XP_011522933.1 | |
XM_011524632.2 | 2121 | Missense Mutation | ACT,ATT | T,I 675 | XP_011522934.1 | |
XM_017024488.1 | 2121 | Missense Mutation | ACT,ATT | T,I 1021 | XP_016879977.1 | |
XM_017024489.1 | 2121 | Intron | XP_016879978.1 |
MAPT - microtubule associated protein tau | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |