Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCGGGGGTCTGGGATGCATCGATGG[C/T]GGAGTGGATCCCCCGTTTCCTGTAG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
36 submissions
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Phenotype: |
MIM: 103020 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AK2 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | CHB (Han Chinese)
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AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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AK2 - adenylate kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199199.1 | 613 | Missense Mutation | ACC,GCC | T,A 201 | NP_001186128.1 | |
NM_001319139.1 | 613 | Missense Mutation | ACC,GCC | T,A 161 | NP_001306068.1 | |
NM_001319140.1 | 613 | Missense Mutation | ACC,GCC | T,A 161 | NP_001306069.1 | |
NM_001319141.1 | 613 | Missense Mutation | ACC,GCC | T,A 209 | NP_001306070.1 | |
NM_001319142.1 | 613 | Missense Mutation | ACC,GCC | T,A 167 | NP_001306071.1 | |
NM_001319143.1 | 613 | UTR 3 | NP_001306072.1 | |||
NM_001625.3 | 613 | Missense Mutation | ACC,GCC | T,A 209 | NP_001616.1 | |
NM_013411.4 | 613 | Missense Mutation | ACC,GCC | T,A 209 | NP_037543.1 |
Set Membership: |
HapMap |