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ACATCATAGAAGAGTCGAACGAGCT[A/G]ATATCGAATGGAGAAGGTGATGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191350 MIM: 601772 MIM: 609806 | ||||||||||||||||||||
Literature Links: |
DPAGT1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
DPAGT1 - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001382.3 | 1836 | Nonsense Mutation | CAG,TAG | Q,* 400 | NP_001373.2 | |
XM_005271422.2 | 1836 | Nonsense Mutation | CAG,TAG | Q,* 426 | XP_005271479.1 | |
XM_011542648.1 | 1836 | Nonsense Mutation | CAG,TAG | Q,* 319 | XP_011540950.1 | |
XM_017017293.1 | 1836 | Nonsense Mutation | CAG,TAG | Q,* 293 | XP_016872782.1 | |
XM_017017294.1 | 1836 | UTR 3 | XP_016872783.1 | |||
XM_017017295.1 | 1836 | Nonsense Mutation | CAG,TAG | Q,* 228 | XP_016872784.1 |
H2AFX - H2A histone family member X | ||||||
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There are no transcripts associated with this gene. |
HMBS - hydroxymethylbilane synthase | ||||||
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There are no transcripts associated with this gene. |