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- SNP ID:
- rs587777817
- Gene
-
POMT1UCK1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.9: 131522972 - 131522973 on Build GRCh38
- Polymorphism:
- -/G, Insertion/deletion
- Context Sequence [VIC/FAM]:
AGCATCTTCAGCGCCCTGGTGGTGG[-/G]CCTGGTACTCCTCCGCGTGCCACGT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607423
MIM: 609328
|
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Literature Links: |
POMT1 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 |
| POMT1 - protein O-mannosyltransferase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001077365.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 682 | NP_001070833.1 | |
| NM_001077366.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 628 | NP_001070834.1 | |
| NM_001136113.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 682 | NP_001129585.1 | |
| NM_001136114.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 565 | NP_001129586.1 | |
| NM_007171.3 | 2099 | Frame Shift InDel | GCC,GGC | A,G 704 | NP_009102.3 | |
| XM_005272156.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 704 | XP_005272213.1 | |
| XM_005272158.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 650 | XP_005272215.1 | |
| XM_005272159.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 587 | XP_005272216.1 | |
| XM_005272162.2 | 2099 | Frame Shift InDel | GCC,GGC | A,G 305 | XP_005272219.1 | |
| XM_006716932.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 587 | XP_006716995.1 | |
| XM_011518140.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 655 | XP_011516442.1 | |
| XM_011518141.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 633 | XP_011516443.1 | |
| XM_011518142.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 601 | XP_011516444.1 | |
| XM_011518143.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 599 | XP_011516445.1 | |
| XM_011518145.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 552 | XP_011516447.1 | |
| XM_017014203.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 650 | XP_016869692.1 | |
| XM_017014204.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 305 | XP_016869693.1 | |
| XM_017014205.1 | 2099 | Frame Shift InDel | GCC,GGC | A,G 305 | XP_016869694.1 | |
| UCK1 - uridine-cytidine kinase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001135954.2 | 2099 | Intron | NP_001129426.1 | |||
| NM_001261450.2 | 2099 | Intron | NP_001248379.1 | |||
| NM_001261451.2 | 2099 | Intron | NP_001248380.1 | |||
| NM_001318519.1 | 2099 | Intron | NP_001305448.1 | |||
| NM_031432.3 | 2099 | Intron | NP_113620.1 | |||
| XM_005272224.2 | 2099 | Intron | XP_005272281.1 | |||
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