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GTCAGGCCAGCCTCCAGGGGCAGGA[C/T]ATGGAACAGGACGCGGCAGCCGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603166 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAP4K2 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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MAP4K2 - mitogen-activated protein kinase kinase kinase kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307990.1 | 1987 | Missense Mutation | ATC,GTC | I,V 674 | NP_001294919.1 | |
NM_004579.4 | 1987 | Missense Mutation | ATC,GTC | I,V 682 | NP_004570.2 | |
XM_011545203.2 | 1987 | Missense Mutation | ATC,GTC | I,V 682 | XP_011543505.1 | |
XM_011545204.2 | 1987 | Missense Mutation | ATC,GTC | I,V 638 | XP_011543506.1 | |
XM_017018093.1 | 1987 | Missense Mutation | ATC,GTC | I,V 630 | XP_016873582.1 | |
XM_017018094.1 | 1987 | Missense Mutation | ATC,GTC | I,V 505 | XP_016873583.1 | |
XM_017018095.1 | 1987 | Missense Mutation | ATC,GTC | I,V 505 | XP_016873584.1 | |
XM_017018096.1 | 1987 | Intron | XP_016873585.1 |