Product Details

SNP ID
rs202174515
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12646663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTGAACTGAGGCCAGGAAAGTG[C/T]GGATTTCCATGGGTTCCAGCGTGAT
Phenotype
MIM: 609458
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAN2B1 PubMed Links

Gene Details

Gene
MAN2B1
Gene Name
mannosidase alpha class 2B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000528.3 2648 Missense Mutation CAC,CGC H998R NP_000519.2
NM_001173498.1 2648 Missense Mutation CAC,CGC H997R NP_001166969.1
XM_005259913.1 2648 Missense Mutation CAC,CGC H999R XP_005259970.1
XM_017026818.1 2648 Missense Mutation CAC,CGC H631R XP_016882307.1

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