Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTTGGAAATCTGGACAAAGAGAAG[C/G]CTGAGAGGAGGCCTGGTCCAGTGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 606822 MIM: 613170 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
POMGNT1 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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POMGNT1 - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243766.1 | 2278 | Missense Mutation | AGC,AGG | S,R 738 | NP_001230695.1 | |
NM_001290129.1 | 2278 | UTR 3 | NP_001277058.1 | |||
NM_001290130.1 | 2278 | UTR 3 | NP_001277059.1 | |||
NM_017739.3 | 2278 | UTR 3 | NP_060209.3 | |||
XM_005271010.1 | 2278 | Missense Mutation | AGC,AGG | S,R 708 | XP_005271067.1 | |
XM_006710755.1 | 2278 | Missense Mutation | AGC,AGG | S,R 708 | XP_006710818.1 | |
XM_006710756.1 | 2278 | Missense Mutation | AGC,AGG | S,R 738 | XP_006710819.1 | |
XM_011541760.2 | 2278 | UTR 3 | XP_011540062.1 | |||
XM_017001690.1 | 2278 | UTR 3 | XP_016857179.1 |
TSPAN1 - tetraspanin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005727.3 | 2278 | Intron | NP_005718.2 | |||
XM_011540460.2 | 2278 | Intron | XP_011538762.1 |