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ACTGCACCTCAAGTTGGCTATGCCA[A/C]TAGCTGTAAATCTCTCCAATTCTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612452 | ||||||||||||||||||||
Literature Links: |
KANSL1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
KANSL1 - KAT8 regulatory NSL complex subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193465.1 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | NP_001180394.1 | |
NM_001193466.1 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | NP_001180395.1 | |
NM_015443.3 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | NP_056258.1 | |
XM_006721823.1 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_006721886.1 | |
XM_006721824.3 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_006721887.1 | |
XM_011524628.2 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_011522930.1 | |
XM_011524629.2 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_011522931.1 | |
XM_011524630.2 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_011522932.1 | |
XM_011524631.2 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_011522933.1 | |
XM_011524632.2 | 1628 | Intron | XP_011522934.1 | |||
XM_017024488.1 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_016879977.1 | |
XM_017024489.1 | 1628 | Missense Mutation | AGT,ATT | S,I 386 | XP_016879978.1 |