Product Details

SNP ID
rs201644764
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:131525962 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACTCCTCGCGGGATGATCACAT[C/T]GGCATACTTCTTTGTCTGTAAGGCA
Phenotype
MIM: 607423 MIM: 609328
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
POMT1 PubMed Links

Gene Details

Gene
POMT1
Gene Name
protein O-mannosyltransferase 1
There are no transcripts associated with this gene.

Gene
UCK1
Gene Name
uridine-cytidine kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135954.2 684 Missense Mutation CAA,CGA Q175R NP_001129426.1
NM_001261450.2 684 Missense Mutation AAT,GAT N198D NP_001248379.1
NM_001261451.2 684 Missense Mutation AAT,GAT N212D NP_001248380.1
NM_001318519.1 684 Missense Mutation AAT,GAT N184D NP_001305448.1
NM_031432.3 684 Missense Mutation AAT,GAT N207D NP_113620.1
XM_005272224.2 684 Missense Mutation AAT,GAT N221D XP_005272281.1

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