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ACCAAGCGGGATACCTGGTGGCCCT[C/G]TGGGAGGGAGCTGGCCCCTGCCCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609912 MIM: 610560 MIM: 600823 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KAT8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KAT8 - lysine acetyltransferase 8 | ||||||
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There are no transcripts associated with this gene. |
PRSS36 - protease, serine 36 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258290.1 | 2028 | Missense Mutation | CAG,GAG | Q,E 652 | NP_001245219.1 | |
NM_001258291.1 | 2028 | Missense Mutation | CAG,GAG | Q,E 657 | NP_001245220.1 | |
NM_173502.4 | 2028 | Missense Mutation | CAG,GAG | Q,E 657 | NP_775773.2 | |
XM_011545758.2 | 2028 | Missense Mutation | CAG,GAG | Q,E 432 | XP_011544060.1 | |
XM_017022968.1 | 2028 | Missense Mutation | CAG,GAG | Q,E 657 | XP_016878457.1 | |
XM_017022969.1 | 2028 | Missense Mutation | CAC,CAG | H,Q 609 | XP_016878458.1 | |
XM_017022970.1 | 2028 | Intron | XP_016878459.1 | |||
XM_017022971.1 | 2028 | Intron | XP_016878460.1 |
PRSS8 - protease, serine 8 | ||||||
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There are no transcripts associated with this gene. |