Product Details

SNP ID
rs146373552
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:119179945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCAGAAAATATTAGGTACAAATA[C/T]CTGGTGAGAGAAACATAAGTATATG
Phenotype
MIM: 604344
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAN1A1 PubMed Links

Gene Details

Gene
MAN1A1
Gene Name
mannosidase alpha class 1A member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005907.3 2139 Silent Mutation AAA,AAG K612K NP_005898.2
XM_005266986.4 2139 Silent Mutation AAA,AAG K695K XP_005267043.1
XM_011535833.2 2139 Silent Mutation AAA,AAG K423K XP_011534135.1
XM_011535834.2 2139 Intron XP_011534136.1

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