Product Details

SNP ID
rs14188
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:131523969 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGGACGGGGGCTGGGGCTGCCC[A/G]TGGCAGCGGCAAGGGATGCTTTCCA
Phenotype
MIM: 607423 MIM: 609328
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
POMT1 PubMed Links

Gene Details

Gene
POMT1
Gene Name
protein O-mannosyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077365.1 1970 Intron NP_001070833.1
NM_001077366.1 1970 Intron NP_001070834.1
NM_001136113.1 1970 Intron NP_001129585.1
NM_001136114.1 1970 Intron NP_001129586.1
NM_007171.3 1970 Intron NP_009102.3
XM_005272156.1 1970 Intron XP_005272213.1
XM_005272158.1 1970 Intron XP_005272215.1
XM_005272159.1 1970 Intron XP_005272216.1
XM_005272162.2 1970 Intron XP_005272219.1
XM_006716932.1 1970 Intron XP_006716995.1
XM_011518140.1 1970 Intron XP_011516442.1
XM_011518141.1 1970 Intron XP_011516443.1
XM_011518142.1 1970 Intron XP_011516444.1
XM_011518143.1 1970 Intron XP_011516445.1
XM_011518145.1 1970 Intron XP_011516447.1
XM_017014203.1 1970 Intron XP_016869692.1
XM_017014204.1 1970 Intron XP_016869693.1
XM_017014205.1 1970 Intron XP_016869694.1
Gene
UCK1
Gene Name
uridine-cytidine kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135954.2 1970 UTR 3 NP_001129426.1
NM_001261450.2 1970 UTR 3 NP_001248379.1
NM_001261451.2 1970 UTR 3 NP_001248380.1
NM_001318519.1 1970 UTR 3 NP_001305448.1
NM_031432.3 1970 UTR 3 NP_113620.1
XM_005272224.2 1970 UTR 3 XP_005272281.1

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