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AGGACCATCCATATATTATAATGTT[A/C]CTTCGAAAATGTAAGAATTTCAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613760 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC36A4 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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SLC36A4 - solute carrier family 36 member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286139.1 | 1470 | Nonsense Mutation | GAA,TAA | E,* 308 | NP_001273068.1 | |
NM_152313.3 | 1470 | Nonsense Mutation | GAA,TAA | E,* 443 | NP_689526.2 | |
XM_017017174.1 | 1470 | UTR 3 | XP_016872663.1 | |||
XM_017017175.1 | 1470 | Nonsense Mutation | GAA,TAA | E,* 337 | XP_016872664.1 | |
XM_017017176.1 | 1470 | Nonsense Mutation | GAA,TAA | E,* 308 | XP_016872665.1 | |
XM_017017177.1 | 1470 | UTR 3 | XP_016872666.1 |