Product Details

SNP ID
rs191039829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:102632084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAAATATCTGTTAAGGAGGTCAC[A/G]TGAAAAGATTGCTCCAACTCATTCT
Phenotype
MIM: 609489
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MANBA PubMed Links

Gene Details

Gene
MANBA
Gene Name
mannosidase beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005908.3 1848 Silent Mutation CAC,CAT H871H NP_005899.3
XM_011531966.2 1848 Silent Mutation CAC,CAT H456H XP_011530268.1
XM_017008203.1 1848 Silent Mutation CAC,CAT H750H XP_016863692.1
XM_017008204.1 1848 Silent Mutation CAC,CAT H655H XP_016863693.1
XM_017008205.1 1848 Silent Mutation CAC,CAT H469H XP_016863694.1

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