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ATGTACAGCCACAGCACGAGGGCGG[C/T]GAAGAGGCCGGCAAAGGCCAGCAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600950 MIM: 614404 | ||||||||||||||||||||
Literature Links: |
AANAT 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 |
AANAT - aralkylamine N-acetyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001088.2 | 3104 | Intron | NP_001079.1 | |||
NM_001166579.1 | 3104 | Intron | NP_001160051.1 | |||
XM_017024259.1 | 3104 | Intron | XP_016879748.1 |
RHBDF2 - rhomboid 5 homolog 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005498.3 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | NP_001005498.2 | |
NM_024599.5 | 3104 | Missense Mutation | ACC,GCC | T,A 817 | NP_078875.4 | |
XM_005257669.3 | 3104 | Missense Mutation | ACC,GCC | T,A 817 | XP_005257726.1 | |
XM_005257670.1 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | XP_005257727.1 | |
XM_011525249.2 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | XP_011523551.1 | |
XM_011525250.2 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | XP_011523552.1 | |
XM_011525251.2 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | XP_011523553.1 | |
XM_017025079.1 | 3104 | Missense Mutation | ACC,GCC | T,A 788 | XP_016880568.1 |