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AGAGTGCTATAGATCTTTCTAATGA[G/T]TTCCATGTTGTTAAGGAGCGAATTA
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603859 | ||||||||||||||||||||||||||||||||
Literature Links: |
SLC25A13 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
SLC25A13 - solute carrier family 25 member 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160210.1 | 865 | Missense Mutation | ATC,CTC | I,L 232 | NP_001153682.1 | |
NM_014251.2 | 865 | Missense Mutation | ATC,CTC | I,L 232 | NP_055066.1 | |
XM_006715831.3 | 865 | Missense Mutation | ATC,CTC | I,L 243 | XP_006715894.1 | |
XM_011515727.2 | 865 | Missense Mutation | ATC,CTC | I,L 243 | XP_011514029.1 | |
XM_017011663.1 | 865 | Missense Mutation | ATC,CTC | I,L 229 | XP_016867152.1 | |
XM_017011664.1 | 865 | UTR 5 | XP_016867153.1 | |||
XM_017011665.1 | 865 | UTR 5 | XP_016867154.1 |
Set Membership: |
HapMap |