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ACATGAGAGCAGCAGTGAGGACTGT[C/G]TGCAGCAGTTTGGCTTCAAGGCCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606795 | ||||||||||||||||||||
Literature Links: |
SLC25A17 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 |
SLC25A17 - solute carrier family 25 member 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282726.1 | 1032 | Missense Mutation | CAC,CAG | H,Q 239 | NP_001269655.1 | |
NM_001282727.1 | 1032 | Missense Mutation | CAC,CAG | H,Q 203 | NP_001269656.1 | |
NM_006358.3 | 1032 | Missense Mutation | CAC,CAG | H,Q 276 | NP_006349.1 |