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TGCATCCTCCTCCTCCTGGCTCACC[A/G]GTTTGTTGGCCCCATCTGTGGGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605729 MIM: 607928 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
WHRN - whirlin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083885.2 | 3158 | Missense Mutation | CCG,CTG | P,L 423 | NP_001077354.2 | |
NM_001173425.1 | 3158 | Missense Mutation | CCG,CTG | P,L 805 | NP_001166896.1 | |
NM_015404.3 | 3158 | Missense Mutation | CCG,CTG | P,L 806 | NP_056219.3 | |
XM_011518484.1 | 3158 | Missense Mutation | CCG,CTG | P,L 817 | XP_011516786.1 | |
XM_011518485.1 | 3158 | Missense Mutation | CCG,CTG | P,L 817 | XP_011516787.1 | |
XM_011518486.1 | 3158 | Missense Mutation | CCG,CTG | P,L 816 | XP_011516788.1 | |
XM_011518487.1 | 3158 | Missense Mutation | CCG,CTG | P,L 775 | XP_011516789.1 | |
XM_011518488.1 | 3158 | Missense Mutation | CCG,CTG | P,L 736 | XP_011516790.1 | |
XM_011518489.2 | 3158 | Intron | XP_011516791.1 | |||
XM_011518491.2 | 3158 | Intron | XP_011516793.1 | |||
XM_011518492.1 | 3158 | Intron | XP_011516794.1 | |||
XM_011518494.2 | 3158 | Intron | XP_011516796.1 | |||
XM_011518495.1 | 3158 | Missense Mutation | CCG,CTG | P,L 376 | XP_011516797.1 |