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TTTCCATCCAATTAAAAAGAGGTTT[C/T]TCTTTTCTGAAGGAAAAAAGAGAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608103 | ||||||||||||||||||||
Literature Links: |
ALG8 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 |
ALG8 - ALG8, alpha-1,3-glucosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007027.2 | 1421 | UTR 3 | NP_001007028.1 | |||
NM_024079.4 | 1421 | Silent Mutation | GAA,GAG | E,E 452 | NP_076984.2 | |
XM_005274247.3 | 1421 | Silent Mutation | GAA,GAG | E,E 443 | XP_005274304.1 | |
XM_011545252.2 | 1421 | Silent Mutation | GAA,GAG | E,E 364 | XP_011543554.1 | |
XM_017018274.1 | 1421 | UTR 3 | XP_016873763.1 |