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CCATGATGGAATCAAATGGCACATT[A/C]AGGAAAAACACCCTATAAGGAAATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615365 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AK8 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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AK8 - adenylate kinase 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317958.1 | 1070 | Silent Mutation | CTG,CTT | L,L 174 | NP_001304887.1 | |
NM_001317959.1 | 1070 | Silent Mutation | CTG,CTT | L,L 206 | NP_001304888.1 | |
NM_152572.2 | 1070 | Silent Mutation | CTG,CTT | L,L 378 | NP_689785.1 | |
XM_005272169.2 | 1070 | Silent Mutation | CTG,CTT | L,L 390 | XP_005272226.1 | |
XM_006716965.2 | 1070 | Silent Mutation | CTG,CTT | L,L 306 | XP_006717028.1 | |
XM_011518277.2 | 1070 | Intron | XP_011516579.1 | |||
XM_011518278.2 | 1070 | Silent Mutation | CTG,CTT | L,L 304 | XP_011516580.1 | |
XM_017014308.1 | 1070 | Silent Mutation | CTG,CTT | L,L 206 | XP_016869797.1 |