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CGGTCCTTAGTCTTGAAGGCCTCGG[C/T]GATAATGCGGGCGGCCTCCCGGTGC
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 |
---|---|---|
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 |
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 | 3394 | Missense Mutation | ACC,GCC | T,A 502 | NP_001077354.2 | |
NM_001173425.1 | 3394 | Missense Mutation | ACC,GCC | T,A 884 | NP_001166896.1 | |
NM_015404.3 | 3394 | Missense Mutation | ACC,GCC | T,A 885 | NP_056219.3 | |
XM_011518484.1 | 3394 | Missense Mutation | ACC,GCC | T,A 896 | XP_011516786.1 | |
XM_011518485.1 | 3394 | Missense Mutation | ACC,GCC | T,A 896 | XP_011516787.1 | |
XM_011518486.1 | 3394 | Missense Mutation | ACC,GCC | T,A 895 | XP_011516788.1 | |
XM_011518487.1 | 3394 | Missense Mutation | ACC,GCC | T,A 854 | XP_011516789.1 | |
XM_011518488.1 | 3394 | Missense Mutation | ACC,GCC | T,A 815 | XP_011516790.1 | |
XM_011518489.2 | 3394 | Intron | XP_011516791.1 | |||
XM_011518491.2 | 3394 | Intron | XP_011516793.1 | |||
XM_011518492.1 | 3394 | Intron | XP_011516794.1 | |||
XM_011518494.2 | 3394 | Intron | XP_011516796.1 | |||
XM_011518495.1 | 3394 | Missense Mutation | ACC,GCC | T,A 455 | XP_011516797.1 |