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CGCCCCAGACGCTTATCAACCTGGC[C/T]GTGTTTGGGACGTTGGTGCAGCCAC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608750 MIM: 611620 | |||||||||||||||||||||||
Literature Links: |
ALG3 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 - 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 |
ALG3 - ALG3, alpha-1,3- mannosyltransferase | ||||||
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There are no transcripts associated with this gene. |
MIR1224 - microRNA 1224 | ||||||
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There are no transcripts associated with this gene. |
VWA5B2 - von Willebrand factor A domain containing 5B2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320373.1 | 1440 | Silent Mutation | GCC,GCT | A,A 167 | NP_001307302.1 | |
NM_138345.2 | 1440 | Silent Mutation | GCC,GCT | A,A 386 | NP_612354.1 | |
XM_011513288.2 | 1440 | Silent Mutation | GCC,GCT | A,A 390 | XP_011511590.1 | |
XM_011513289.2 | 1440 | Silent Mutation | GCC,GCT | A,A 390 | XP_011511591.1 | |
XM_011513290.2 | 1440 | Silent Mutation | GCC,GCT | A,A 390 | XP_011511592.1 | |
XM_011513291.2 | 1440 | Silent Mutation | GCC,GCT | A,A 390 | XP_011511593.1 | |
XM_011513292.2 | 1440 | Silent Mutation | GCC,GCT | A,A 386 | XP_011511594.1 |