Product Details

SNP ID
rs145833671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:1624483 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAGAGATACTCACATCGAAAGCGA[C/G]CCGGGGCTTCCAGTTCAGCTTCTGT
Phenotype
MIM: 602884
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GMDS PubMed Links

Gene Details

Gene
GMDS
Gene Name
GDP-mannose 4,6-dehydratase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001253846.1 970 Missense Mutation CTC,GTC L319V NP_001240775.1
NM_001500.3 970 Missense Mutation CTC,GTC L349V NP_001491.1
XM_006715066.2 970 Intron XP_006715129.1
XM_011514500.1 970 Missense Mutation CTC,GTC L319V XP_011512802.1
XM_011514502.2 970 Intron XP_011512804.1
XM_011514503.2 970 Intron XP_011512805.1
XM_011514505.1 970 Intron XP_011512807.1
XM_011514506.1 970 Intron XP_011512808.1
XM_011514507.1 970 Intron XP_011512809.1
XM_017010752.1 970 Missense Mutation CTC,GTC L262V XP_016866241.1

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