Product Details

SNP ID
rs145756079
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:102632064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATACAACCTAGATTCCTTCAGTAA[A/G]TATCTGTTAAGGAGGTCACATGAAA
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 1868 Missense Mutation ACT,ATT T878I NP_005899.3
XM_011531966.2 1868 Missense Mutation ACT,ATT T463I XP_011530268.1
XM_017008203.1 1868 Missense Mutation ACT,ATT T757I XP_016863692.1
XM_017008204.1 1868 Missense Mutation ACT,ATT T662I XP_016863693.1
XM_017008205.1 1868 Missense Mutation ACT,ATT T476I XP_016863694.1

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