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CTGAACTTCATATTCTCCTCCCCCA[C/T]CGGGCTGTCCACCGTTGCTGACGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612834 MIM: 275360 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PHLDB1 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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TREH - trehalase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301065.1 | 1619 | Missense Mutation | GAT,GGT | D,G 494 | NP_001287994.1 | |
NM_007180.2 | 1619 | Missense Mutation | GAT,GGT | D,G 525 | NP_009111.2 |