Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTGCTGCTGGACTCCAAATGTGAC[C/T]GTTTGCCAGAGGTCAGCATCCCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 607423 MIM: 609328 | ||||||||||||||||||||
Literature Links: |
POMT1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
UCK1 - uridine-cytidine kinase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135954.2 | 865 | UTR 3 | NP_001129426.1 | |||
NM_001261450.2 | 865 | Missense Mutation | CAG,CGG | Q,R 258 | NP_001248379.1 | |
NM_001261451.2 | 865 | Missense Mutation | CAG,CGG | Q,R 272 | NP_001248380.1 | |
NM_001318519.1 | 865 | Missense Mutation | CAG,CGG | Q,R 244 | NP_001305448.1 | |
NM_031432.3 | 865 | Missense Mutation | CAG,CGG | Q,R 267 | NP_113620.1 | |
XM_005272224.2 | 865 | Missense Mutation | CAG,CGG | Q,R 281 | XP_005272281.1 |