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GATTCAGCATTGCCATCTCCAAGTG[C/G]TCTTCGTAGGGAAACAGTTTCTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605907 MIM: 615263 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALG1 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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ALG1 - ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_019109.4 | 2223 | UTR 3 | NP_061982.3 | |||
XM_011522565.1 | 2223 | Intron | XP_011520867.1 | |||
XM_017023457.1 | 2223 | Intron | XP_016878946.1 | |||
XM_017023458.1 | 2223 | Intron | XP_016878947.1 |
EEF2KMT - eukaryotic elongation factor 2 lysine methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289029.1 | 2223 | Intron | NP_001275958.1 | |||
NM_201400.3 | 2223 | Intron | NP_958802.1 | |||
NM_201598.3 | 2223 | Intron | NP_963892.1 | |||
XM_005255157.4 | 2223 | Intron | XP_005255214.1 | |||
XM_005255158.4 | 2223 | Intron | XP_005255215.1 | |||
XM_011522404.2 | 2223 | Intron | XP_011520706.1 |