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GGAGAGCAGCATGGAGGCGTCCTGG[C/G]GGAGCTTCAACGCTGAGCGGGGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616518 MIM: 611023 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SLC38A6 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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SLC38A6 - solute carrier family 38 member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172702.1 | 132 | Missense Mutation | CGG,GGG | R,G 6 | NP_001166173.1 | |
NM_153811.2 | 132 | Missense Mutation | CGG,GGG | R,G 6 | NP_722518.2 | |
XM_006720049.3 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_006720112.1 | |
XM_006720050.1 | 132 | Intron | XP_006720113.1 | |||
XM_011536469.2 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_011534771.1 | |
XM_017021020.1 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_016876509.1 | |
XM_017021021.1 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_016876510.1 | |
XM_017021022.1 | 132 | UTR 5 | XP_016876511.1 | |||
XM_017021023.1 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_016876512.1 | |
XM_017021024.1 | 132 | Missense Mutation | CGG,GGG | R,G 6 | XP_016876513.1 | |
XM_017021025.1 | 132 | UTR 5 | XP_016876514.1 | |||
XM_017021026.1 | 132 | Intron | XP_016876515.1 | |||
XM_017021027.1 | 132 | Intron | XP_016876516.1 | |||
XM_017021028.1 | 132 | Intron | XP_016876517.1 |
TRMT5 - tRNA methyltransferase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020810.3 | 132 | Intron | NP_065861.3 | |||
XM_005267916.3 | 132 | Intron | XP_005267973.2 | |||
XM_011537017.2 | 132 | Intron | XP_011535319.1 |