Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCAACGTGTAGAGATGAAAACGTC[C/T]GTGAAGCTGCTTCTCGAGTAAATAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604565 | ||||||||||||||||||||
Literature Links: |
ALG5 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 |
ALG5 - ALG5, dolichyl-phosphate beta-glucosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142364.1 | 810 | Missense Mutation | CAG,CGG | Q,R 218 | NP_001135836.1 | |
NM_013338.4 | 810 | Missense Mutation | CAG,CGG | Q,R 248 | NP_037470.1 | |
XM_017020552.1 | 810 | Missense Mutation | CAG,CGG | Q,R 185 | XP_016876041.1 |