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CCCACATGTTGCACAAATCCACTTT[C/G]AGCTTGCATTTGCTGAAGTTTCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 608009 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AK5 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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AK5 - adenylate kinase 5 | ||||||
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There are no transcripts associated with this gene. |
ZZZ3 - zinc finger ZZ-type containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308237.1 | 1396 | Missense Mutation | CAA,GAA | Q,E 318 | NP_001295166.1 | |
NM_015534.5 | 1396 | Missense Mutation | CAA,GAA | Q,E 812 | NP_056349.1 | |
XM_005270725.3 | 1396 | Missense Mutation | CAA,GAA | Q,E 812 | XP_005270782.1 | |
XM_005270726.3 | 1396 | Missense Mutation | CAA,GAA | Q,E 812 | XP_005270783.1 | |
XM_005270727.3 | 1396 | Missense Mutation | CAA,GAA | Q,E 811 | XP_005270784.1 | |
XM_005270729.4 | 1396 | Missense Mutation | CAA,GAA | Q,E 318 | XP_005270786.1 | |
XM_017000970.1 | 1396 | Missense Mutation | CAA,GAA | Q,E 811 | XP_016856459.1 | |
XM_017000971.1 | 1396 | Intron | XP_016856460.1 | |||
XM_017000972.1 | 1396 | Missense Mutation | CAA,GAA | Q,E 317 | XP_016856461.1 |