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GGCTGGTGGGGGAGAGGCTGTGGGC[A/G]GCCACTTGGCAGCTGGTTGGGCTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605729 MIM: 138610 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKNA 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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AKNA - AT-hook transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317950.1 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | NP_001304879.1 | |
NM_001317952.1 | 3923 | Missense Mutation | CCG,CTG | P,L 1254 | NP_001304881.1 | |
NM_030767.5 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | NP_110394.3 | |
XM_005252244.2 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | XP_005252301.1 | |
XM_005252245.1 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | XP_005252302.1 | |
XM_005252247.4 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | XP_005252304.1 | |
XM_005252248.2 | 3923 | Missense Mutation | CCG,CTG | P,L 1341 | XP_005252305.1 | |
XM_006717294.1 | 3923 | Missense Mutation | CCG,CTG | P,L 1373 | XP_006717357.1 | |
XM_006717295.2 | 3923 | Intron | XP_006717358.1 | |||
XM_011519063.2 | 3923 | Missense Mutation | CCG,CTG | P,L 1254 | XP_011517365.1 | |
XM_011519064.2 | 3923 | Intron | XP_011517366.1 | |||
XM_011519065.2 | 3923 | Missense Mutation | CCG,CTG | P,L 1254 | XP_011517367.2 | |
XM_011519066.2 | 3923 | Intron | XP_011517368.1 | |||
XM_017015172.1 | 3923 | Missense Mutation | CCG,CTG | P,L 1254 | XP_016870661.1 |
ORM2 - orosomucoid 2 | ||||||
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There are no transcripts associated with this gene. |