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CCAGTATCCGTCAGAGCAGAGCTTT[C/T]ACCTGGCCCTGCTGCGGCAGCCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605245 | ||||||||||||||||||||
Literature Links: |
SLC2A8 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 |
SLC2A8 - solute carrier family 2 member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271711.1 | 823 | Missense Mutation | CAC,TAC | H,Y 244 | NP_001258640.1 | |
NM_001271712.1 | 823 | Missense Mutation | CAC,TAC | H,Y 81 | NP_001258641.1 | |
NM_014580.4 | 823 | Missense Mutation | CAC,TAC | H,Y 244 | NP_055395.2 | |
XM_006717084.3 | 823 | Missense Mutation | CAC,TAC | H,Y 244 | XP_006717147.1 | |
XM_011518602.2 | 823 | Intron | XP_011516904.1 | |||
XM_011518603.2 | 823 | Missense Mutation | CAC,TAC | H,Y 109 | XP_011516905.1 | |
XM_011518604.2 | 823 | Intron | XP_011516906.1 | |||
XM_017014653.1 | 823 | Missense Mutation | CAC,TAC | H,Y 81 | XP_016870142.1 |